From 25a50f5ce272b291194fdd5551358b24f9f580b9 Mon Sep 17 00:00:00 2001 From: Duong Date: Wed, 11 Dec 2019 15:57:13 -0500 Subject: [PATCH 01/19] add step 3 to Snakefile --- analyses/copy_number_consensus_call/Snakefile | 30 +++++++++++++++++++ 1 file changed, 30 insertions(+) diff --git a/analyses/copy_number_consensus_call/Snakefile b/analyses/copy_number_consensus_call/Snakefile index 64f03c53cb..2ac61baaa0 100644 --- a/analyses/copy_number_consensus_call/Snakefile +++ b/analyses/copy_number_consensus_call/Snakefile @@ -83,3 +83,33 @@ rule manta_filter: """ | sort -k1,1 -k2,2n > {output.manta_del} && """ """awk '$6~/DUP/ {{if ($5 > {params.SIZE_CUTOFF}) {{print$2,$3,$4,$5,"NA","NA",$6}}}}' {input} """ """ | sort -k1,1 -k2,2n > {output.manta_dup}""" + + +rule filter_telomeres: + input: + ## Define the location of the input file and take the path/extension from the config file + script=str(config["scripts"]) + "get_rid_bad_segments.py", + bad_list=str(config["scripts"]) + "bad_chromosomal_seg_updated_merged.txt", + cnvkit_del="../../scratch/interim/{sample}.cnvkit.del.bed", + cnvkit_dup="../../scratch/interim/{sample}.cnvkit.dup.bed", + freec_del="../../scratch/interim/{sample}.freec.del.bed", + freec_dup="../../scratch/interim/{sample}.freec.dup.bed", + manta_del="../../scratch/interim/{sample}.manta.del.bed", + manta_dup="../../scratch/interim/{sample}.manta.dup.bed" + output: + ## Define the output files' names + cnvkit_del="../../scratch/interim/{sample}.cnvkit.del.filtered.bed", + cnvkit_dup="../../scratch/interim/{sample}.cnvkit.dup.filtered.bed", + freec_del="../../scratch/interim/{sample}.freec.del.filtered.bed", + freec_dup="../../scratch/interim/{sample}.freec.dup.filtered.bed", + manta_del="../../scratch/interim/{sample}.manta.del.filtered.bed", + manta_dup="../../scratch/interim/{sample}.manta.dup.filtered.bed" + threads: 1 + shell: + ## Invoke the python3 script and pass in the reference and CNVs files. Direct the stdout to a new file. + "python3 {input.script} --reference {input.bad_list} --file {input.cnvkit_del} > {output.cnvkit_del} &&" + "python3 {input.script} --reference {input.bad_list} --file {input.cnvkit_dup} > {output.cnvkit_dup} &&" + "python3 {input.script} --reference {input.bad_list} --file {input.freec_del} > {output.freec_del} &&" + "python3 {input.script} --reference {input.bad_list} --file {input.freec_dup} > {output.freec_dup} &&" + "python3 {input.script} --reference {input.bad_list} --file {input.manta_del} > {output.manta_del} &&" + "python3 {input.script} --reference {input.bad_list} --file {input.manta_dup} > {output.manta_dup}" From 14a6e232d050071789abd5311b46fd6e1cfe1571 Mon Sep 17 00:00:00 2001 From: Duong Date: Wed, 11 Dec 2019 16:04:52 -0500 Subject: [PATCH 02/19] Add file --- .../src/scripts/get_rid_bad_segments.py | 135 ++++++++++++++++++ 1 file changed, 135 insertions(+) create mode 100644 analyses/copy_number_consensus_call/src/scripts/get_rid_bad_segments.py diff --git a/analyses/copy_number_consensus_call/src/scripts/get_rid_bad_segments.py b/analyses/copy_number_consensus_call/src/scripts/get_rid_bad_segments.py new file mode 100644 index 0000000000..536a00d67c --- /dev/null +++ b/analyses/copy_number_consensus_call/src/scripts/get_rid_bad_segments.py @@ -0,0 +1,135 @@ + +################## PURPOSE ################# +# This script is to get rid of unwanted/trouble regions like telomeric, centromeric, and known seg-dups regions +# This script is to take in 2 files +# 1st: A reference/list of bad segments that contains the bad segments and their start/end positions +# 2nd: A list of CNVs that need the bad segments to be filtered out + +################# ASSUMPTION ############### +# It is assumed that the reference file DO NOT have overlapping telomeric/centromeric/segments +# The provided reference file "bad_chromosomal_seg_updated_merged.txt" DOES NOT have +# overlaping segments - thus the assumption is not violated. +# If the use of a different reference file is desired, make sure to merge the file first before using this script. + +############################################ + +# Imports in the pep8 order https://www.python.org/dev/peps/pep-0008/#imports +# Standard library +import argparse +import subprocess +import sys +import os + +parser = argparse.ArgumentParser(description="""This script filters out telomeric, + centromeric, and seg-dup regions""") +parser.add_argument('--reference', required=True, + help='path to the reference list of bad segments to be filtered out for') +parser.add_argument('--file', required=True, + help='path to the CNVs file that needs to be filtered') + +args = parser.parse_args() + +#querie_file = sys.argv[2] + +#db_file = sys.argv[1] #bad segment list + + +## Check to see if the CNVs file is empty, if so, make an empty variable +if os.stat(args.cnvfile).st_size == 0: + final_content = [] + +## If the file has content, then load in the content +else: + with open (args.cnvfile) as file: + + ## Strip the trailing spaces for each line + stripped_content = [i.rstrip() for i in file.readlines()] + + ## If the file is TAB delimited, split the file up by TABs + if stripped_content[0].find('\t') != -1: + final_content = [i.split('\t') for i in stripped_content] + + ## If the file is space delimited, split the file up by the spaces + else: + final_content = [i.split() for i in stripped_content] + + ## If the 1st column has '1' instead of 'chr1' for the chromosome number, add in 'chr' + if final_content[0][0].find('chr') == -1: + for c,chromo in enumerate(final_content): + final_content[c][0] = 'chr' + final_content[c][0] + + + +## Works with the assumption that the segments in the file on the next line DO NOT OVERLAP +## Read in the reference file +with open(args.reference) as file: + + ## Strip the trailing spaces for each line + reference_stripped = [i.rstrip() for i in file.readlines()] + + ## If the file is TAB delimited, split the file up by TABs + if reference_stripped[0].find('\t') != 1: + fin_reference_file = [i.split('\t') for i in reference_stripped] + + ## If the file is space delimited, split the file up by the spaces + else: + fin_reference_file = [i.split() for i in reference_stripped] + + ## If the 1st column has '1' instead of 'chr1' for the chromosome number, add in 'chr' + if fin_reference_file[0][0].find('chr') == -1: + for c,chromo in enumerate(fin_reference_file): + fin_reference_file[c][0] = 'chr' + fin_reference_file[c][0] + + +## Define a variable to hold the final results +fin_list = [] + +## Loop through the CNVs file. +## If any segment in the reference file overlap >50%, then get rid of that CNV +for i in final_content: + + ## Initiate a variable for the total overlapping + overlap = 0 + + ## Get the start/end coordinates of the cnv + start_cnv = int(i[1]) + end_cnv = int(i[2]) + + ## Make sure end > start (end downstream from start) + if start_cnv > end_cnv: + start_cnv, end_cnv = end_cnv, start_cnv + + ## For each CNV, loop through the entire reference file + for j in fin_reference_file: + start_ref = int(j[1]) + end_ref = int(j[2]) + + ## Make sure end > start + if start_ref > end_ref: + start_ref, end_ref = end_ref, start_ref + + ## If the chromosome number matches and the CNV segment overlaps with the reference segment + if i[0] == j[0] and start_cnv <= end_ref and end_cnv >= start_ref: + + ## Get the overlapping coordinate + start = max(start_cnv,start_ref) + end = min(end_cnv,end_ref) + + ## Calculate the overlapping ratio + ## If the CNV overlaps with many segments in the reference file + ## We add the overlappting ratios -> This works due to the assumption on line 8 + overlap += (end - start + 1 )/(end_cnv-start_cnv + 1) + + + ## If the overall overlapping ratio is smaller than 50%, we add the CNVs to a final list + if overlap <= 0.5: + fin_list = fin_list + [i] + + +## Print the list to STDOUT -> Python print() function prints to STDOUT by default. +try: + for k in fin_list: + print('\t'.join(k)) + sys.stderr.write('$$$ Filtering was successful\n') +except: + sys.stderr.write('!!! Filtering was not successful\n') From df8596eceacf836dfbeb57b57ef95483d833695d Mon Sep 17 00:00:00 2001 From: Duong Date: Wed, 11 Dec 2019 16:09:49 -0500 Subject: [PATCH 03/19] Add files --- .../bad_chromosomal_seg_updated_merged.txt | 3693 +++++++++++++++++ .../src/scripts/get_rid_bad_segments.py | 4 +- 2 files changed, 3695 insertions(+), 2 deletions(-) create mode 100644 analyses/copy_number_consensus_call/src/scripts/bad_chromosomal_seg_updated_merged.txt diff --git a/analyses/copy_number_consensus_call/src/scripts/bad_chromosomal_seg_updated_merged.txt b/analyses/copy_number_consensus_call/src/scripts/bad_chromosomal_seg_updated_merged.txt new file mode 100644 index 0000000000..258b124a72 --- /dev/null +++ b/analyses/copy_number_consensus_call/src/scripts/bad_chromosomal_seg_updated_merged.txt @@ -0,0 +1,3693 @@ +chr1 0 535988 telo,,, length,,, +chr1 585988 817292 +chr1 823659 867135 +chr1 867192 872507 +chr1 1444514 1448930 +chr1 1496432 1502033 +chr1 1632457 1665030 +chr1 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34657314 +chr16 34671898 34693126 +chr16 34770573 34840702 +chr16 34840751 34847755 +chr16 34866317 34901484 +chr16 34917924 34946364 +chr16 34981838 35072498 +chr16 35086010 35089031 +chr16 35300000 47000000 p11.1,,,,,q11.1,q11.2,,,,, acen,,,,,acen,gvar,,,,, +chr16 47597694 47598997 +chr16 51645749 51647131 +chr16 52655232 52657333 +chr16 53491378 53492755 +chr16 53627740 53628831 +chr16 55776428 55820004 +chr16 57428189 57429280 +chr16 58891094 58892198 +chr16 60357195 60361112 +chr16 69118009 69120650 +chr16 69943595 70009897 +chr16 70009898 70075615 +chr16 70075623 70149551 +chr16 70163056 70203688 +chr16 70205978 70249674 +chr16 70811383 71168670 +chr16 71312154 71314390 +chr16 71927612 71929003 +chr16 72056410 72058130 +chr16 72058134 72062433 +chr16 72074164 72078603 +chr16 74328241 74372145 +chr16 74374671 74430284 +chr16 74443323 74446757 +chr16 74525429 74556263 +chr16 74856210 74858245 +chr16 75204666 75206200 +chr16 75222760 75224294 +chr16 75240485 75243087 +chr16 81043157 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943070 +chr17 1062177 1063852 +chr17 1063885 1065564 +chr17 1117172 1119517 +chr17 1308070 1309831 +chr17 1309864 1311625 +chr17 3050860 3082008 +chr17 3221835 3253425 +chr17 4223719 4225054 +chr17 4635735 4642260 +chr17 4831017 4833067 +chr17 5119454 5122470 +chr17 5129068 5138764 +chr17 5141022 5179306 +chr17 6655159 6661436 +chr17 7481332 7483496 +chr17 12141145 12143734 +chr17 14019962 14030804 +chr17 14170711 14194597 +chr17 14230542 14241379 +chr17 15519639 15567586 +chr17 15567588 15648200 +chr17 15665241 15756337 +chr17 15756347 15773480 +chr17 15784135 15880697 +chr17 16161539 16170393 +chr17 16616150 16618021 +chr17 16665879 16668134 +chr17 16679149 16813672 +chr17 16813676 16873390 +chr17 16882904 16906713 +chr17 17001982 17017820 +chr17 18384909 18569991 +chr17 18570603 18627470 +chr17 18628600 18772118 +chr17 18776763 18848096 +chr17 19020655 19025017 +chr17 19025184 19237509 +chr17 19581999 19583330 +chr17 19587402 19588723 +chr17 20309890 20560909 +chr17 20563257 20618710 +chr17 20626299 20698415 +chr17 20698417 20702755 +chr17 20703091 20707746 +chr17 20707853 20711503 +chr17 20785526 20789610 +chr17 20830779 20881669 +chr17 20883174 20906980 +chr17 20983896 20986626 +chr17 21304469 21351656 +chr17 21399777 21450415 +chr17 21546843 21602809 +chr17 21602817 21679644 +chr17 21687226 21795643 +chr17 21825838 21842279 +chr17 21844881 21851154 +chr17 22042061 22123504 +chr17 22270077 22300183 +chr17 22377409 22386844 +chr17 22386871 22399544 +chr17 22411522 22440238 +chr17 22533642 22576200 +chr17 22700000 27400000 p11.1,q11.1,,,,,, acen,acen,,,,,, +chr17 29201572 29204516 +chr17 30563365 30581923 +chr17 30600452 30616027 +chr17 30616128 30780078 +chr17 31008336 31029520 +chr17 31034076 31051210 +chr17 31345374 31348726 +chr17 31936301 31986837 +chr17 32001249 32003796 +chr17 32020963 32033071 +chr17 32037969 32098958 +chr17 32115290 32120046 +chr17 32126979 32131668 +chr17 34036703 34037796 +chr17 34183519 34190242 +chr17 34792681 34793815 +chr17 35192795 35196004 +chr17 35490948 35494377 +chr17 35802225 35804051 +chr17 36041158 36043009 +chr17 36154432 36184636 +chr17 36222498 36398310 +chr17 36400000 36458166 +chr17 37861671 37881446 +chr17 37890225 37912902 +chr17 37914596 38314968 +chr17 38468622 38505893 +chr17 38516174 38532272 +chr17 38724770 38727187 +chr17 41164634 41165933 +chr17 41574556 41589516 +chr17 42218140 42221687 +chr17 42297272 42301464 +chr17 42752734 42753907 +chr17 43227256 43231422 +chr17 43231423 43252467 +chr17 43257197 43259840 +chr17 43261695 43301548 +chr17 43301956 43306127 +chr17 43345761 43346835 +chr17 44034634 44036300 +chr17 44179358 44181730 +chr17 45414926 45516128 +chr17 45516131 45573555 +chr17 45584666 45592740 +chr17 45593558 45627799 +chr17 46217039 46252364 +chr17 46253803 46260783 +chr17 46280687 46707123 +chr17 47013620 47064438 +chr17 47068689 47071024 +chr17 47423887 47426677 +chr17 47444173 47463984 +chr17 47474712 47594070 +chr17 47682402 47683638 +chr17 48070051 48071568 +chr17 49423293 49424909 +chr17 49827397 49829093 +chr17 54961212 54963431 +chr17 56288065 56289091 +chr17 56368070 56369427 +chr17 57972571 57974902 +chr17 59204419 59207098 +chr17 59572880 59600000 +chr17 59975506 60035640 +chr17 60099302 60102238 +chr17 60110888 60127341 +chr17 60172722 60221224 +chr17 60374694 60382053 +chr17 62219930 62235465 +chr17 62249434 62277656 +chr17 62277796 62298462 +chr17 62411419 62561492 +chr17 62612389 62615477 +chr17 63861628 63877382 +chr17 63885471 63899952 +chr17 64749210 64750403 +chr17 64764433 64918918 +chr17 64918952 64920144 +chr17 64922392 64933895 +chr17 68046107 68047302 +chr17 75777458 75779185 +chr17 76044985 76046347 +chr17 76225664 76227089 +chr17 76563826 76565348 +chr17 76679568 76680881 +chr17 78170816 78172720 +chr17 81918268 81919349 +chr17 82757441 83257441 q25.3, telo, +chr17_GL000205v2_random 0 185591 gneg, , +chr17_GL000258v2_alt 0 1821992 gneg +chr17_GL383563v3_alt 0 375691 gneg +chr17_GL383564v2_alt 0 133151 gneg +chr17_GL383565v1_alt 0 223995 gneg +chr17_GL383566v1_alt 0 90219 gneg +chr17_JH159146v1_alt 0 278131 gneg +chr17_JH159147v1_alt 0 70345 gneg +chr17_JH159148v1_alt 0 88070 gneg +chr17_KI270729v1_random 0 280839 gneg,,,,, ,,,,, +chr17_KI270730v1_random 0 112551 gneg,, ,, +chr17_KI270857v1_alt 0 2877074 gneg +chr17_KI270858v1_alt 0 235827 gneg +chr17_KI270859v1_alt 0 108763 gneg +chr17_KI270860v1_alt 0 178921 gneg +chr17_KI270861v1_alt 0 196688 gneg +chr17_KI270862v1_alt 0 391357 gneg +chr17_KI270907v1_alt 0 137721 gneg +chr17_KI270908v1_alt 0 1423190 gneg +chr17_KI270909v1_alt 0 325800 gneg +chr17_KI270910v1_alt 0 157099 gneg +chr17_KV575245v1_fix 0 154723 gneg +chr17_KV766196v1_fix 0 281919 gneg +chr17_KV766197v1_alt 0 246895 gneg +chr17_KV766198v1_alt 0 276292 gneg +chr17_KZ559114v1_alt 0 116753 gneg +chr18 0 500000 p11.32,,, telo,,, +chr18 2943215 2945874 +chr18 3580226 3581650 +chr18 8923926 8925743 +chr18 9512987 9522509 +chr18 10592917 10599606 +chr18 10604204 10656105 +chr18 10909567 10915778 +chr18 11608722 11614814 +chr18 11614823 11643852 +chr18 11644335 11648536 +chr18 11916166 11923609 +chr18 12072502 12075363 +chr18 12076953 12083499 +chr18 12121304 12141450 +chr18 12167145 12231381 +chr18 13106822 13107888 +chr18 14125137 14158268 +chr18 14171468 14261406 +chr18 14280759 14353420 +chr18 14358135 14728625 +chr18 14736723 14746383 +chr18 14759248 14766013 +chr18 14796305 14797734 +chr18 14797744 14799174 +chr18 14800000 14901073 +chr18 14901113 14907872 +chr18 14935636 15391148 +chr18 15400000 21500000 p11.1,q11.1, acen,acen, +chr18 22076724 22078507 +chr18 22580999 22582608 +chr18 22769504 22770959 +chr18 26167861 26170801 +chr18 26254354 26256382 +chr18 26582816 26584426 +chr18 26600231 26601324 +chr18 26924305 26934505 +chr18 26962292 26982322 +chr18 27279482 27286563 +chr18 31756078 31760679 +chr18 32129117 32130717 +chr18 32411496 32413237 +chr18 45813969 45815406 +chr18 46962113 46969912 +chr18 47019912 47031626 +chr18 47630734 47631792 +chr18 48869265 48871700 +chr18 48978098 48980116 +chr18 57521732 57522786 +chr18 58017657 58019061 +chr18 58918509 58920633 +chr18 58983968 58986480 +chr18 59969439 59972744 +chr18 60014639 60017467 +chr18 60123906 60125365 +chr18 64368700 64370061 +chr18 65778845 65780809 +chr18 66715074 66721416 +chr18 68535095 68542455 +chr18 78369969 78373042 +chr18 78512822 78514862 +chr18 78838760 78840011 +chr18 78840104 78841316 +chr18 79014309 79015625 +chr18 79015640 79016960 +chr18 79033254 79035166 +chr18 79035178 79037090 +chr18 79356782 79357825 +chr18 79357856 79358977 +chr18 79549943 79552079 +chr18 79618431 79619563 +chr18 79619619 79620756 +chr18 79873285 80373285 q23 telo +chr18_GL383567v1_alt 0 289831 gneg +chr18_GL383568v1_alt 0 104552 gneg +chr18_GL383569v1_alt 0 167950 gneg +chr18_GL383570v1_alt 0 164789 gneg +chr18_GL383571v1_alt 0 198278 gneg +chr18_GL383572v1_alt 0 159547 gneg +chr18_KI270863v1_alt 0 167999 gneg +chr18_KI270864v1_alt 0 111737 gneg +chr18_KI270911v1_alt 0 157710 gneg +chr18_KI270912v1_alt 0 174061 gneg +chr18_KQ090028v1_fix 0 407387 gneg +chr18_KQ458385v1_alt 0 205101 gneg +chr18_KZ208922v1_fix 0 93070 gneg +chr18_KZ559115v1_fix 0 230843 gneg +chr18_KZ559116v1_alt 0 163186 gneg +chr19 0 500000 p13.3,,,,, telo,,,,, +chr19 613245 617150 +chr19 1874883 1875900 +chr19 1876976 1881805 +chr19 3172670 3175628 +chr19 3972972 3975116 +chr19 4960654 4962152 +chr19 6896657 6897776 +chr19 6897803 6898912 +chr19 7018679 7052022 +chr19 8271973 8301679 +chr19 8736834 8790250 +chr19 11665720 11667091 +chr19 12385985 12404553 +chr19 12425555 12444343 +chr19 13139375 13141128 +chr19 13702320 13704566 +chr19 14185549 14242420 +chr19 14245705 14255986 +chr19 14280079 14300340 +chr19 14583558 14592482 +chr19 14622240 14623288 +chr19 16101261 16103005 +chr19 16973345 16976153 +chr19 18031214 18033426 +chr19 20259247 20262881 +chr19 20466772 20468459 +chr19 21880251 21890542 +chr19 22138921 22140092 +chr19 22377175 22417482 +chr19 22635867 22679600 +chr19 22685182 22688817 +chr19 22925264 22928611 +chr19 23827082 23828135 +chr19 24200000 28100000 p11,q11, acen,acen, +chr19 29207145 29208159 +chr19 29897898 29902388 +chr19 32979161 33029925 +chr19 35357924 35360991 +chr19 35365361 35373445 +chr19 36267919 36324422 +chr19 37254116 37305717 +chr19 37792670 37794058 +chr19 38728991 38730138 +chr19 38769330 38775278 +chr19 38786883 38793390 +chr19 39241741 39248900 +chr19 39264089 39273022 +chr19 39873725 39889994 +chr19 39890001 39906246 +chr19 40830651 40855617 +chr19 40861515 40887402 +chr19 41506080 41508198 +chr19 41643870 41646306 +chr19 42710868 42714371 +chr19 42728970 42754170 +chr19 42754180 42805412 +chr19 42811012 42822169 +chr19 42885147 42890334 +chr19 42895713 42902381 +chr19 42925620 42990455 +chr19 43000037 43056463 +chr19 43056509 43156802 +chr19 43175062 43180881 +chr19 43194187 43237152 +chr19 43237167 43239761 +chr19 43239764 43242055 +chr19 43248463 43251975 +chr19 43258049 43297619 +chr19 43336250 43351972 +chr19 43354470 43365854 +chr19 43366767 43368382 +chr19 43369081 43380285 +chr19 43381509 43397766 +chr19 44888106 44889222 +chr19 46438801 46440212 +chr19 46440215 46441626 +chr19 47365221 47367359 +chr19 47903486 47959659 +chr19 49022557 49045400 +chr19 49054033 49056098 +chr19 50074454 50090966 +chr19 50091196 50138075 +chr19 50604751 50606152 +chr19 50608569 50623425 +chr19 51182331 51183556 +chr19 51326761 51330354 +chr19 51463248 51464460 +chr19 51629275 51630583 +chr19 51645699 51647007 +chr19 53277817 53286591 +chr19 53297444 53305881 +chr19 53426019 53429018 +chr19 53512125 53515439 +chr19 53665825 53667078 +chr19 53668213 53669562 +chr19 54219877 54225093 +chr19 54239621 54244927 +chr19 54288798 54290029 +chr19 54606452 54607586 +chr19 55756123 55765055 +chr19 55766130 55775058 +chr19 56018843 56020923 +chr19 56494160 56495437 +chr19 56672577 56673901 +chr19 58067921 58069408 +chr19 58117616 58617616 q13.43, telo, +chr19_GL000209v2_alt 0 177381 gneg +chr19_GL383573v1_alt 0 385657 gneg 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184516 gneg +chr19_KI270917v1_alt 0 190932 gneg +chr19_KI270918v1_alt 0 123111 gneg +chr19_KI270919v1_alt 0 170701 gneg +chr19_KI270920v1_alt 0 198005 gneg +chr19_KI270921v1_alt 0 282224 gneg +chr19_KI270922v1_alt 0 187935 gneg +chr19_KI270923v1_alt 0 189352 gneg +chr19_KI270929v1_alt 0 186203 gneg +chr19_KI270930v1_alt 0 200773 gneg +chr19_KI270931v1_alt 0 170148 gneg +chr19_KI270932v1_alt 0 215732 gneg +chr19_KI270933v1_alt 0 170537 gneg +chr19_KI270938v1_alt 0 1066800 gneg +chr19_KN196484v1_fix 0 370917 gneg +chr19_KQ458386v1_fix 0 405389 gneg +chr19_KV575246v1_alt 0 163926 gneg +chr19_KV575247v1_alt 0 170206 gneg +chr19_KV575248v1_alt 0 168131 gneg +chr19_KV575249v1_alt 0 293522 gneg +chr19_KV575250v1_alt 0 241058 gneg +chr19_KV575251v1_alt 0 159285 gneg +chr19_KV575252v1_alt 0 178197 gneg +chr19_KV575253v1_alt 0 166713 gneg +chr19_KV575254v1_alt 0 99845 gneg +chr19_KV575255v1_alt 0 161095 gneg +chr19_KV575256v1_alt 0 223118 gneg +chr19_KV575257v1_alt 0 100553 gneg 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20324592 20355569 +chr22 20362648 20377695 +chr22 20451509 20453240 +chr22 20667580 20671339 +chr22 20678347 20699044 +chr22 20700323 20720038 +chr22 20731437 20738049 +chr22 21057379 21062735 +chr22 21111384 21151083 +chr22 21151091 21443089 +chr22 21458187 21562827 +chr22 21954496 21958494 +chr22 21990603 22947816 ,,,,,, ,,,,,, +chr22 23306925 23321261 +chr22 23322143 23351708 +chr22 23432025 23461151 +chr22 23594547 23601125 +chr22 23853822 23856326 +chr22 23939932 23969548 +chr22 23971773 24001392 +chr22 24179310 24184938 +chr22 24240956 24265823 +chr22 24266131 24268803 +chr22 24268948 24283958 +chr22 24286747 24301118 +chr22 24602424 24684046 +chr22 24764774 24766052 +chr22 25177661 25179556 +chr22 25226889 25247092 +chr22 25253643 25258280 +chr22 25258590 25276742 +chr22 25284953 25313517 +chr22 25426105 25427123 +chr22 25428803 25435365 +chr22 25454748 25471797 +chr22 25502468 25507013 +chr22 25515602 25532252 +chr22 25575611 25576630 +chr22 25580799 25617150 +chr22 26560430 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110099 gneg +chr2_KI270769v1_alt 0 120616 gneg +chr2_KI270770v1_alt 0 136240 gneg +chr2_KI270771v1_alt 0 110395 gneg +chr2_KI270772v1_alt 0 133041 gneg +chr2_KI270773v1_alt 0 70887 gneg +chr2_KI270774v1_alt 0 223625 gneg +chr2_KI270775v1_alt 0 138019 gneg +chr2_KI270776v1_alt 0 174166 gneg +chr2_KI270893v1_alt 0 161218 gneg +chr2_KI270894v1_alt 0 214158 gneg +chr2_KN538362v1_fix 0 208149 gneg +chr2_KN538363v1_fix 0 365499 gneg +chr2_KQ031384v1_fix 0 481245 gneg +chr2_KQ983256v1_alt 0 535088 gneg +chr2_KZ208907v1_alt 0 181658 gneg +chr2_KZ208908v1_alt 0 140361 gneg +chr3 0 500000 p26.3, telo, +chr3 570539 621684 +chr3 957577 959277 +chr3 6772209 6773241 +chr3 7159711 7161423 +chr3 8681887 8694004 +chr3 10043056 10045083 +chr3 11233433 11234539 +chr3 11484538 11488665 +chr3 11859673 11861713 +chr3 14112076 14113173 +chr3 15122608 15146427 +chr3 15374237 15375760 +chr3 18905303 18911455 +chr3 22381719 22382926 +chr3 27633021 27635439 +chr3 29200051 29201099 +chr3 30327703 30329664 +chr3 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61518808 61735365 +chr9 61785368 62149738 +chr9 62249738 62748832 +chr9 62798832 62883136 +chr9 62883195 62958371 +chr9 63008371 63202862 +chr9 63252862 63492264 +chr9 63542264 63823213 +chr9 63823220 63916428 +chr9 63968447 64011925 +chr9 64011930 64135013 +chr9 64315162 64998121 +chr9 65130082 65325123 +chr9 65375123 65595191 +chr9 65645191 66391387 +chr9 66591387 67920552 +chr9 68220552 68416768 +chr9 70701801 70737787 +chr9 70896677 70897921 +chr9 73191444 73194373 +chr9 74804477 74806245 +chr9 76398617 76399666 +chr9 77717484 77721514 +chr9 78328977 78330093 +chr9 81688216 81689600 +chr9 81921504 81951670 +chr9 82427256 82438194 +chr9 83808960 83822003 +chr9 83826070 83877281 +chr9 83877282 83916090 +chr9 83968086 83969442 +chr9 85746676 85797070 +chr9 85801137 85852545 +chr9 86264550 86266192 +chr9 87908261 87942696 +chr9 88110274 88140844 +chr9 88836574 88837703 +chr9 89853918 89861821 +chr9 90210076 90219584 +chr9 90219840 90234968 +chr9 90741334 90763067 +chr9 92099159 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137882742 137891226 +chr9 137894717 138394717 q34.3, telo, +chr9_GL383539v1_alt 0 162988 gneg +chr9_GL383540v1_alt 0 71551 gneg +chr9_GL383541v1_alt 0 171286 gneg +chr9_GL383542v1_alt 0 60032 gneg +chr9_KI270717v1_random 0 40062 ,gneg , +chr9_KI270718v1_random 0 38054 ,gneg , +chr9_KI270719v1_random 0 176845 ,gneg , +chr9_KI270720v1_random 0 39050 ,gneg , +chr9_KI270823v1_alt 0 439082 gneg +chr9_KN196479v1_fix 0 330164 gneg +chr9_KQ090018v1_alt 0 163882 gneg +chr9_KQ090019v1_alt 0 134099 gneg +chrM 0 16569 gneg, , +chrUn_GL000195v1 0 182896 ,gneg , +chrUn_GL000213v1 0 164239 ,gneg , +chrUn_GL000214v1 0 137718 ,gneg , +chrUn_GL000216v2 0 176608 gneg, , +chrUn_GL000218v1 0 161147 ,gneg , +chrUn_GL000219v1 0 179198 gneg,,, ,,, +chrUn_GL000220v1 0 161802 ,gneg , +chrUn_GL000224v1 0 179693 gneg,,, ,,, +chrUn_GL000226v1 0 15008 gneg +chrUn_KI270302v1 0 2274 gneg +chrUn_KI270303v1 0 1942 gneg +chrUn_KI270304v1 0 2165 gneg +chrUn_KI270305v1 0 1472 gneg +chrUn_KI270310v1 0 1201 gneg 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120087063 +chrX 120149239 120198163 +chrX 120524642 120526507 +chrX 120872112 120879381 +chrX 120929381 120987017 +chrX 121049240 121050605 +chrX 123114484 123117048 +chrX 123798189 123799440 +chrX 123814788 123816043 +chrX 127980352 127983460 +chrX 130496053 130497567 +chrX 135116124 135169738 +chrX 135201730 135256413 +chrX 135595169 135599972 +chrX 135685104 135689851 +chrX 135708636 135735206 +chrX 135747098 135820655 +chrX 135823172 135889704 +chrX 136873243 136874453 +chrX 139447611 139448973 +chrX 139987439 139989009 +chrX 140004209 140020416 +chrX 140032298 140033882 +chrX 140213662 140229404 +chrX 140995026 141114593 +chrX 141223633 141253248 +chrX 141472816 141585256 +chrX 141585310 141600000 +chrX 141676598 141700907 +chrX 141909482 141918104 +chrX 142184815 142193399 +chrX 144077866 144212554 +chrX 146618738 146619774 +chrX 146800253 146827558 +chrX 146969077 146972458 +chrX 147182883 147186730 +chrX 147279104 147287193 +chrX 147476328 147477504 +chrX 149487425 149489014 +chrX 149502817 149504215 +chrX 149525017 149528032 +chrX 149532423 149562200 +chrX 149573131 149602236 +chrX 149652864 149681127 +chrX 149722143 149750398 +chrX 149767137 149796257 +chrX 149917295 149947803 +chrX 150214487 150216892 +chrX 150340178 150342583 +chrX 151913985 151916711 +chrX 151916715 151919430 +chrX 152678580 152729753 +chrX 152738707 152789895 +chrX 152982558 152989220 +chrX 153066013 153074418 +chrX 153075612 153084041 +chrX 153105760 153149741 +chrX 153250232 153294975 +chrX 153312693 153318116 +chrX 153686262 153712806 +chrX 153740494 153750251 +chrX 154144047 154219582 +chrX 154219584 154294510 +chrX 154335935 154347246 +chrX 154384867 154396222 +chrX 154555684 154591327 +chrX 154613096 154648782 +chrX 154816298 154817522 +chrX 154880814 154890327 +chrX 155006106 155007147 +chrX 155147780 155148821 +chrX 155288183 155291419 +chrX 155335093 155336485 +chrX 155336692 155386727 +chrX 155453982 155504550 +chrX 155540895 156040895 q28,, telo,, +chrX_KI270880v1_alt 0 284869 gneg +chrX_KI270881v1_alt 0 144206 gneg +chrX_KI270913v1_alt 0 274009 gneg +chrX_KV766199v1_alt 0 188004 gneg +chrY 0 500000 p11.32 telo +chrY 3049917 3390556 +chrY 3390564 3657611 +chrY 3665865 3844209 +chrY 3853083 4483712 +chrY 4485640 4503323 +chrY 4503652 4720620 +chrY 4720625 4960524 +chrY 4961294 5398165 +chrY 5398169 6234575 +chrY 6239790 6532742 +chrY 6532794 6724154 +chrY 6727805 6748559 +chrY 7571556 7578460 +chrY 7578487 7592157 +chrY 7593393 7672921 +chrY 9116371 9226266 +chrY 9307616 9328481 +chrY 9333197 9403713 +chrY 9453713 9534943 +chrY 9628424 9802672 +chrY 9812674 9914616 +chrY 10130746 10132031 +chrY 10300000 10600000 p11.1,q11.1 acen,acen +chrY 10627654 10631557 +chrY 10645833 10649989 +chrY 10657084 10659685 +chrY 10663793 10665875 +chrY 10671594 10673424 +chrY 10682499 10686063 +chrY 10687804 10690240 +chrY 10691902 10693741 +chrY 10744219 10747280 +chrY 11083604 11297246 +chrY 11334432 11490282 +chrY 11542135 11545307 +chrY 11545496 11570475 +chrY 11570660 11592902 +chrY 11749525 11754909 +chrY 11757891 11856234 +chrY 11856619 11863510 +chrY 13897987 13934612 +chrY 13981651 14019657 +chrY 14023071 14060475 +chrY 14940688 14941748 +chrY 15874857 15883580 +chrY 15896218 15904944 +chrY 16159551 16269546 +chrY 16315775 16425797 +chrY 16618382 16619407 +chrY 17455803 17951260 +chrY 17951308 18450201 +chrY 18450212 18640361 +chrY 18680026 18870184 +chrY 18990639 18992642 +chrY 21005926 21021692 +chrY 21047764 21063547 +chrY 21492775 21591097 +chrY 21640200 21739542 +chrY 21741441 21750013 +chrY 21755823 21789281 +chrY 21840375 22208735 +chrY 22377682 23144660 +chrY 23150701 24127380 +chrY 24128531 25544397 +chrY 25545548 26332449 +chrY 26332459 26402277 +chrY 26402439 26409096 +chrY 26409386 26462512 +chrY 26491387 26637925 +chrY 26645970 26651723 +chrY 26656366 26663634 +chrY 26664925 26673210 +chrY 56673214 57227415 ,q12,, ,telo,, +chrY_KI270740v1_random 0 37240 gneg +chrY_KN196487v1_fix 0 101150 gneg +chrY_KZ208923v1_fix 0 48370 gneg +chrY_KZ208924v1_fix 0 209722 gneg diff --git a/analyses/copy_number_consensus_call/src/scripts/get_rid_bad_segments.py b/analyses/copy_number_consensus_call/src/scripts/get_rid_bad_segments.py index 536a00d67c..b2db22d623 100644 --- a/analyses/copy_number_consensus_call/src/scripts/get_rid_bad_segments.py +++ b/analyses/copy_number_consensus_call/src/scripts/get_rid_bad_segments.py @@ -35,12 +35,12 @@ ## Check to see if the CNVs file is empty, if so, make an empty variable -if os.stat(args.cnvfile).st_size == 0: +if os.stat(args.file).st_size == 0: final_content = [] ## If the file has content, then load in the content else: - with open (args.cnvfile) as file: + with open (args.file) as file: ## Strip the trailing spaces for each line stripped_content = [i.rstrip() for i in file.readlines()] From 7c427eb7bf9328e3e32b9076d777fd34b42d235d Mon Sep 17 00:00:00 2001 From: Duong Date: Wed, 11 Dec 2019 17:59:31 -0500 Subject: [PATCH 04/19] add file --- analyses/copy_number_consensus_call/Snakefile | 10 +++++----- 1 file changed, 5 insertions(+), 5 deletions(-) diff --git a/analyses/copy_number_consensus_call/Snakefile b/analyses/copy_number_consensus_call/Snakefile index 2ac61baaa0..bf0af547ef 100644 --- a/analyses/copy_number_consensus_call/Snakefile +++ b/analyses/copy_number_consensus_call/Snakefile @@ -2,9 +2,9 @@ # Updated Dec 5, 2019 ## Define the ending file(s) that we want -ALL_FREEC= expand("../../scratch/interim/{sample}.freec.dup.bed", sample=config["samples"]) -ALL_CNVKIT= expand("../../scratch/interim/{sample}.cnvkit.dup.bed", sample=config["samples"]) -ALL_MANTA= expand("../../scratch/interim/{sample}.manta.dup.bed", sample=config["samples"]) +ALL_FREEC= expand("../../scratch/interim/{sample}.freec.dup.filtered.bed", sample=config["samples"]) +ALL_CNVKIT= expand("../../scratch/interim/{sample}.cnvkit.dup.filtered.bed", sample=config["samples"]) +ALL_MANTA= expand("../../scratch/interim/{sample}.manta.dup.filtered.bed", sample=config["samples"]) ## Define the first rule of the Snakefile. This rule determines what the final file is and which steps to be taken. @@ -83,7 +83,7 @@ rule manta_filter: """ | sort -k1,1 -k2,2n > {output.manta_del} && """ """awk '$6~/DUP/ {{if ($5 > {params.SIZE_CUTOFF}) {{print$2,$3,$4,$5,"NA","NA",$6}}}}' {input} """ """ | sort -k1,1 -k2,2n > {output.manta_dup}""" - + rule filter_telomeres: input: @@ -112,4 +112,4 @@ rule filter_telomeres: "python3 {input.script} --reference {input.bad_list} --file {input.freec_del} > {output.freec_del} &&" "python3 {input.script} --reference {input.bad_list} --file {input.freec_dup} > {output.freec_dup} &&" "python3 {input.script} --reference {input.bad_list} --file {input.manta_del} > {output.manta_del} &&" - "python3 {input.script} --reference {input.bad_list} --file {input.manta_dup} > {output.manta_dup}" + "python3 {input.script} --reference {input.bad_list} --file {input.manta_dup} > {output.manta_dup}" \ No newline at end of file From b332ab1d10eaa8d17398361699ed9e7854568089 Mon Sep 17 00:00:00 2001 From: Duong Date: Wed, 11 Dec 2019 18:04:10 -0500 Subject: [PATCH 05/19] add file --- analyses/copy_number_consensus_call/Snakefile | 4 ++-- 1 file changed, 2 insertions(+), 2 deletions(-) diff --git a/analyses/copy_number_consensus_call/Snakefile b/analyses/copy_number_consensus_call/Snakefile index bf0af547ef..8ee38c9019 100644 --- a/analyses/copy_number_consensus_call/Snakefile +++ b/analyses/copy_number_consensus_call/Snakefile @@ -88,8 +88,8 @@ rule manta_filter: rule filter_telomeres: input: ## Define the location of the input file and take the path/extension from the config file - script=str(config["scripts"]) + "get_rid_bad_segments.py", - bad_list=str(config["scripts"]) + "bad_chromosomal_seg_updated_merged.txt", + script=str(config["scripts"]) + "\\get_rid_bad_segments.py", + bad_list=str(config["scripts"]) + "\\bad_chromosomal_seg_updated_merged.txt", cnvkit_del="../../scratch/interim/{sample}.cnvkit.del.bed", cnvkit_dup="../../scratch/interim/{sample}.cnvkit.dup.bed", freec_del="../../scratch/interim/{sample}.freec.del.bed", From c22ff1b495ab86a181d5bf5f9a770971d4fb51d5 Mon Sep 17 00:00:00 2001 From: Duong Date: Wed, 11 Dec 2019 18:05:04 -0500 Subject: [PATCH 06/19] add file --- analyses/copy_number_consensus_call/Snakefile | 4 ++-- 1 file changed, 2 insertions(+), 2 deletions(-) diff --git a/analyses/copy_number_consensus_call/Snakefile b/analyses/copy_number_consensus_call/Snakefile index 8ee38c9019..87f5911ccb 100644 --- a/analyses/copy_number_consensus_call/Snakefile +++ b/analyses/copy_number_consensus_call/Snakefile @@ -88,8 +88,8 @@ rule manta_filter: rule filter_telomeres: input: ## Define the location of the input file and take the path/extension from the config file - script=str(config["scripts"]) + "\\get_rid_bad_segments.py", - bad_list=str(config["scripts"]) + "\\bad_chromosomal_seg_updated_merged.txt", + script=str(config["scripts"]) + "/get_rid_bad_segments.py", + bad_list=str(config["scripts"]) + "/bad_chromosomal_seg_updated_merged.txt", cnvkit_del="../../scratch/interim/{sample}.cnvkit.del.bed", cnvkit_dup="../../scratch/interim/{sample}.cnvkit.dup.bed", freec_del="../../scratch/interim/{sample}.freec.del.bed", From 531a067b891ec65ab538170e6d4caa212a0c7901 Mon Sep 17 00:00:00 2001 From: Joshua Shapiro Date: Fri, 13 Dec 2019 14:50:21 -0500 Subject: [PATCH 07/19] Simplify snakemake Taking advantage of some snakemake features to reduce redundancy. --- analyses/copy_number_consensus_call/Snakefile | 28 ++++++------------- 1 file changed, 8 insertions(+), 20 deletions(-) diff --git a/analyses/copy_number_consensus_call/Snakefile b/analyses/copy_number_consensus_call/Snakefile index 87f5911ccb..90bf506050 100644 --- a/analyses/copy_number_consensus_call/Snakefile +++ b/analyses/copy_number_consensus_call/Snakefile @@ -88,28 +88,16 @@ rule manta_filter: rule filter_telomeres: input: ## Define the location of the input file and take the path/extension from the config file - script=str(config["scripts"]) + "/get_rid_bad_segments.py", - bad_list=str(config["scripts"]) + "/bad_chromosomal_seg_updated_merged.txt", - cnvkit_del="../../scratch/interim/{sample}.cnvkit.del.bed", - cnvkit_dup="../../scratch/interim/{sample}.cnvkit.dup.bed", - freec_del="../../scratch/interim/{sample}.freec.del.bed", - freec_dup="../../scratch/interim/{sample}.freec.dup.bed", - manta_del="../../scratch/interim/{sample}.manta.del.bed", - manta_dup="../../scratch/interim/{sample}.manta.dup.bed" + script=os.path.join(config["scripts"], "get_rid_bad_segments.py"), + bad_list=os.path.join(config["scripts"], "bad_chromosomal_seg_updated_merged.txt"), + bedfile="../../scratch/interim/{sample}.{caller}.{dupdel}.bed" output: ## Define the output files' names - cnvkit_del="../../scratch/interim/{sample}.cnvkit.del.filtered.bed", - cnvkit_dup="../../scratch/interim/{sample}.cnvkit.dup.filtered.bed", - freec_del="../../scratch/interim/{sample}.freec.del.filtered.bed", - freec_dup="../../scratch/interim/{sample}.freec.dup.filtered.bed", - manta_del="../../scratch/interim/{sample}.manta.del.filtered.bed", - manta_dup="../../scratch/interim/{sample}.manta.dup.filtered.bed" + filtered_bed="../../scratch/interim/{sample}.{caller}.{dupdel}.filtered.bed" + wildcard_constraints: + caller = "cnvkit|freec|manta", + dupde = "del|dup" threads: 1 shell: ## Invoke the python3 script and pass in the reference and CNVs files. Direct the stdout to a new file. - "python3 {input.script} --reference {input.bad_list} --file {input.cnvkit_del} > {output.cnvkit_del} &&" - "python3 {input.script} --reference {input.bad_list} --file {input.cnvkit_dup} > {output.cnvkit_dup} &&" - "python3 {input.script} --reference {input.bad_list} --file {input.freec_del} > {output.freec_del} &&" - "python3 {input.script} --reference {input.bad_list} --file {input.freec_dup} > {output.freec_dup} &&" - "python3 {input.script} --reference {input.bad_list} --file {input.manta_del} > {output.manta_del} &&" - "python3 {input.script} --reference {input.bad_list} --file {input.manta_dup} > {output.manta_dup}" \ No newline at end of file + "python3 {input.script} --reference {input.bad_list} --file {input.bedfile} > {output.filtered_bed}" \ No newline at end of file From d98069fd88eb8b48b5c855ab18d363fd52782205 Mon Sep 17 00:00:00 2001 From: Joshua Shapiro Date: Fri, 13 Dec 2019 16:19:42 -0500 Subject: [PATCH 08/19] spelling fix --- analyses/copy_number_consensus_call/Snakefile | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/analyses/copy_number_consensus_call/Snakefile b/analyses/copy_number_consensus_call/Snakefile index 90bf506050..88e110dcbe 100644 --- a/analyses/copy_number_consensus_call/Snakefile +++ b/analyses/copy_number_consensus_call/Snakefile @@ -96,7 +96,7 @@ rule filter_telomeres: filtered_bed="../../scratch/interim/{sample}.{caller}.{dupdel}.filtered.bed" wildcard_constraints: caller = "cnvkit|freec|manta", - dupde = "del|dup" + dupdel = "del|dup" threads: 1 shell: ## Invoke the python3 script and pass in the reference and CNVs files. Direct the stdout to a new file. From 85cfc1bd309deb479c8796df75ad1104068797df Mon Sep 17 00:00:00 2001 From: Nhat Duong Date: Mon, 16 Dec 2019 10:31:33 -0500 Subject: [PATCH 09/19] Update analyses/copy_number_consensus_call/Snakefile Co-Authored-By: jashapiro --- analyses/copy_number_consensus_call/Snakefile | 6 ++++-- 1 file changed, 4 insertions(+), 2 deletions(-) diff --git a/analyses/copy_number_consensus_call/Snakefile b/analyses/copy_number_consensus_call/Snakefile index 87f5911ccb..79b11c86e2 100644 --- a/analyses/copy_number_consensus_call/Snakefile +++ b/analyses/copy_number_consensus_call/Snakefile @@ -4,7 +4,9 @@ ## Define the ending file(s) that we want ALL_FREEC= expand("../../scratch/interim/{sample}.freec.dup.filtered.bed", sample=config["samples"]) ALL_CNVKIT= expand("../../scratch/interim/{sample}.cnvkit.dup.filtered.bed", sample=config["samples"]) -ALL_MANTA= expand("../../scratch/interim/{sample}.manta.dup.filtered.bed", sample=config["samples"]) +OUTPUT= expand("../../scratch/interim/{sample}.{caller}.dup.filtered.bed", + sample=config["samples"], + caller=["freec", "cnvkit", "manta"]) ## Define the first rule of the Snakefile. This rule determines what the final file is and which steps to be taken. @@ -112,4 +114,4 @@ rule filter_telomeres: "python3 {input.script} --reference {input.bad_list} --file {input.freec_del} > {output.freec_del} &&" "python3 {input.script} --reference {input.bad_list} --file {input.freec_dup} > {output.freec_dup} &&" "python3 {input.script} --reference {input.bad_list} --file {input.manta_del} > {output.manta_del} &&" - "python3 {input.script} --reference {input.bad_list} --file {input.manta_dup} > {output.manta_dup}" \ No newline at end of file + "python3 {input.script} --reference {input.bad_list} --file {input.manta_dup} > {output.manta_dup}" From 94b4af1d709dddfee8c0477edaa0b213832f3a34 Mon Sep 17 00:00:00 2001 From: Duong Date: Mon, 16 Dec 2019 11:00:13 -0500 Subject: [PATCH 10/19] changed file --- analyses/copy_number_consensus_call/Snakefile | 3 ++- 1 file changed, 2 insertions(+), 1 deletion(-) diff --git a/analyses/copy_number_consensus_call/Snakefile b/analyses/copy_number_consensus_call/Snakefile index bf415bded4..1655dfd321 100644 --- a/analyses/copy_number_consensus_call/Snakefile +++ b/analyses/copy_number_consensus_call/Snakefile @@ -102,4 +102,5 @@ rule filter_telomeres: threads: 1 shell: ## Invoke the python3 script and pass in the reference and CNVs files. Direct the stdout to a new file. - "python3 {input.script} --reference {input.bad_list} --file {input.bedfile} > {output.filtered_bed}" \ No newline at end of file + "python3 {input.script} --reference {input.bad_list} --file {input.bedfile} > {output.filtered_bed}" + From 5b9a0e6ff0cbc28eb152c3955bee08baf66dfc09 Mon Sep 17 00:00:00 2001 From: Duong Date: Mon, 16 Dec 2019 11:09:37 -0500 Subject: [PATCH 11/19] changed Snakemake --- analyses/copy_number_consensus_call/Snakefile | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/analyses/copy_number_consensus_call/Snakefile b/analyses/copy_number_consensus_call/Snakefile index 1655dfd321..43158e79a3 100644 --- a/analyses/copy_number_consensus_call/Snakefile +++ b/analyses/copy_number_consensus_call/Snakefile @@ -12,7 +12,7 @@ OUTPUT= expand("../../scratch/interim/{sample}.{caller}.dup.filtered.bed", ## Define the first rule of the Snakefile. This rule determines what the final file is and which steps to be taken. rule all: input: - ALL_FREEC + ALL_CNVKIT + ALL_MANTA + OUTPUT ######################### FILTER STEP FOR THE 3 CALL METHODS #################################### From e2090be8d7fd6947c61f5b1b5fe9422267f219f5 Mon Sep 17 00:00:00 2001 From: Joshua Shapiro Date: Mon, 16 Dec 2019 15:17:45 -0500 Subject: [PATCH 12/19] Switch to tabs for filter output Also adds filtered `del` files. --- analyses/copy_number_consensus_call/Snakefile | 25 +++++++++++-------- 1 file changed, 15 insertions(+), 10 deletions(-) diff --git a/analyses/copy_number_consensus_call/Snakefile b/analyses/copy_number_consensus_call/Snakefile index 43158e79a3..1f78dc727b 100644 --- a/analyses/copy_number_consensus_call/Snakefile +++ b/analyses/copy_number_consensus_call/Snakefile @@ -2,11 +2,10 @@ # Updated Dec 5, 2019 ## Define the ending file(s) that we want -ALL_FREEC= expand("../../scratch/interim/{sample}.freec.dup.filtered.bed", sample=config["samples"]) -ALL_CNVKIT= expand("../../scratch/interim/{sample}.cnvkit.dup.filtered.bed", sample=config["samples"]) -OUTPUT= expand("../../scratch/interim/{sample}.{caller}.dup.filtered.bed", +OUTPUT= expand("../../scratch/interim/{sample}.{caller}.{dupdel}.filtered.bed", sample=config["samples"], - caller=["freec", "cnvkit", "manta"]) + caller=["freec", "cnvkit", "manta"], + dupdel=["dup", "del"]) ## Define the first rule of the Snakefile. This rule determines what the final file is and which steps to be taken. @@ -37,10 +36,12 @@ rule freec_filter: ## The last pipe is to sort first digit of chromosome number numerically """awk '$6~/loss/ {{print $2,$3,$4,($4-$3 + 1),$5,$9}}' {input.events} """ """ | awk '{{if ($4 > {params.SIZE_CUTOFF} && $6 < {params.FREEC_PVAL}){{print $0,"DEL"}}}}' """ - """ | sort -k1,1 -k2,2n > {output.freec_del} && """ + """ | sort -k1,1 -k2,2n """ + """ | tr [:blank:] '\t' > {output.freec_del} && """ """awk '$6~/gain/ {{print $2,$3,$4,($4-$3 + 1),$5,$9}}' {input.events} """ """ | awk '{{if ($4 > {params.SIZE_CUTOFF} && $6 < {params.FREEC_PVAL}){{print $0,"DUP"}}}}' """ - """ | sort -k1,1 -k2,2n > {output.freec_dup}""" + """ | sort -k1,1 -k2,2n """ + """ | tr [:blank:] '\t' > {output.freec_dup}""" rule cnvkit_filter: input: @@ -60,10 +61,12 @@ rule cnvkit_filter: ## The last pipe is to sort first digit of chromosome number numerically """awk '$7<2 {{print $2,$3,$4,($4-$3 + 1),$7,"NA"}}' {input.events} """ """ | awk '{{if ($4 > {params.SIZE_CUTOFF}){{print $0,"DEL"}}}}' """ - """ | sort -k1,1 -k2,2n > {output.cnvkit_del} && """ + """ | sort -k1,1 -k2,2n """ + """ | tr [:blank:] '\t' > {output.cnvkit_del} && """ """awk '$7>2 {{print $2,$3,$4,($4-$3 + 1),$7,"NA"}}' {input.events} """ """ | awk '{{if ($4 > {params.SIZE_CUTOFF}){{print $0,"DUP"}}}}' """ - """ | sort -k1,1 -k2,2n > {output.cnvkit_dup}""" + """ | sort -k1,1 -k2,2n """ + """ | tr [:blank:] '\t' > {output.cnvkit_dup}""" rule manta_filter: input: @@ -82,9 +85,11 @@ rule manta_filter: ## the first awk also filters out for CNV length ## The last pipe is to sort first digit of chromosome number numerically """awk '$6~/DEL/ {{if ($5 > {params.SIZE_CUTOFF}) {{print$2,$3,$4,$5,"NA","NA",$6}}}}' {input} """ - """ | sort -k1,1 -k2,2n > {output.manta_del} && """ + """ | sort -k1,1 -k2,2n """ + """ | tr [:blank:] '\t' > {output.manta_del} && """ """awk '$6~/DUP/ {{if ($5 > {params.SIZE_CUTOFF}) {{print$2,$3,$4,$5,"NA","NA",$6}}}}' {input} """ - """ | sort -k1,1 -k2,2n > {output.manta_dup}""" + """ | sort -k1,1 -k2,2n """ + """ | tr [:blank:] '\t' > {output.manta_dup}""" rule filter_telomeres: From f4978e2dead2fc4078bf5e59a1a45188df7938fd Mon Sep 17 00:00:00 2001 From: Joshua Shapiro Date: Mon, 16 Dec 2019 16:08:45 -0500 Subject: [PATCH 13/19] Add "chr" to output files that don't have them This makes all files uniform bed format files. --- analyses/copy_number_consensus_call/Snakefile | 8 ++++---- 1 file changed, 4 insertions(+), 4 deletions(-) diff --git a/analyses/copy_number_consensus_call/Snakefile b/analyses/copy_number_consensus_call/Snakefile index 1f78dc727b..94df793a29 100644 --- a/analyses/copy_number_consensus_call/Snakefile +++ b/analyses/copy_number_consensus_call/Snakefile @@ -34,11 +34,11 @@ rule freec_filter: ## The first awk looks at column 6 to filter out for loss/gain. Then it prints out 6 of the 7 columns above ## The pipe into the second awk filters the CNV length, freec pval, and add in the CNV type ## The last pipe is to sort first digit of chromosome number numerically - """awk '$6~/loss/ {{print $2,$3,$4,($4-$3 + 1),$5,$9}}' {input.events} """ + """awk '$6~/loss/ {{print "chr"$2,$3,$4,($4-$3 + 1),$5,$9}}' {input.events} """ """ | awk '{{if ($4 > {params.SIZE_CUTOFF} && $6 < {params.FREEC_PVAL}){{print $0,"DEL"}}}}' """ """ | sort -k1,1 -k2,2n """ """ | tr [:blank:] '\t' > {output.freec_del} && """ - """awk '$6~/gain/ {{print $2,$3,$4,($4-$3 + 1),$5,$9}}' {input.events} """ + """awk '$6~/gain/ {{print "chr"$2,$3,$4,($4-$3 + 1),$5,$9}}' {input.events} """ """ | awk '{{if ($4 > {params.SIZE_CUTOFF} && $6 < {params.FREEC_PVAL}){{print $0,"DUP"}}}}' """ """ | sort -k1,1 -k2,2n """ """ | tr [:blank:] '\t' > {output.freec_dup}""" @@ -84,10 +84,10 @@ rule manta_filter: ## The first awk looks at column 6 to filter out for loss/gain (DEL/DUP). Then it prints out 6 of the 7 columns above. Put NA for both p-value and copy number since MANTA results don't have these values. ## the first awk also filters out for CNV length ## The last pipe is to sort first digit of chromosome number numerically - """awk '$6~/DEL/ {{if ($5 > {params.SIZE_CUTOFF}) {{print$2,$3,$4,$5,"NA","NA",$6}}}}' {input} """ + """awk '$6~/DEL/ {{if ($5 > {params.SIZE_CUTOFF}) {{print "chr"$2,$3,$4,$5,"NA","NA",$6}}}}' {input} """ """ | sort -k1,1 -k2,2n """ """ | tr [:blank:] '\t' > {output.manta_del} && """ - """awk '$6~/DUP/ {{if ($5 > {params.SIZE_CUTOFF}) {{print$2,$3,$4,$5,"NA","NA",$6}}}}' {input} """ + """awk '$6~/DUP/ {{if ($5 > {params.SIZE_CUTOFF}) {{print "chr"$2,$3,$4,$5,"NA","NA",$6}}}}' {input} """ """ | sort -k1,1 -k2,2n """ """ | tr [:blank:] '\t' > {output.manta_dup}""" From 0d2b447bcf4f68cc55822551d6cf0e7bcc56cb1c Mon Sep 17 00:00:00 2001 From: Duong Date: Tue, 17 Dec 2019 02:17:47 -0500 Subject: [PATCH 14/19] add re.split --- .../generate_black_list.sh | 13 +++++++++++++ .../src/scripts/get_rid_bad_segments.py | 19 +++++-------------- 2 files changed, 18 insertions(+), 14 deletions(-) create mode 100644 analyses/copy_number_consensus_call/generate_black_list.sh diff --git a/analyses/copy_number_consensus_call/generate_black_list.sh b/analyses/copy_number_consensus_call/generate_black_list.sh new file mode 100644 index 0000000000..8253295beb --- /dev/null +++ b/analyses/copy_number_consensus_call/generate_black_list.sh @@ -0,0 +1,13 @@ +#!/bin/bash + + +# This script captures the steps to generate the bad_chromosomal_seg_updated_merged.txt + +# There are two components to this file the "IGLL regions, centromeric and telomeric regions" and the "segmental duplication regions" +# 1) The IGLL regions, centromeric and telomeric regions are generated from the practice described by Kai Wang at his PennCNV website http://penncnv.openbioinformatics.org/en/latest/misc/faq/ +# 2) The segmental duplication are downloaded from UCSC genome browser. The segmental duplication with 95% identity was downloaded and merged. +# 3) In the end, everything was put together into one file, sorted and merged. + + + +cat diff --git a/analyses/copy_number_consensus_call/src/scripts/get_rid_bad_segments.py b/analyses/copy_number_consensus_call/src/scripts/get_rid_bad_segments.py index b2db22d623..f6f77aecb0 100644 --- a/analyses/copy_number_consensus_call/src/scripts/get_rid_bad_segments.py +++ b/analyses/copy_number_consensus_call/src/scripts/get_rid_bad_segments.py @@ -19,6 +19,7 @@ import subprocess import sys import os +import re parser = argparse.ArgumentParser(description="""This script filters out telomeric, centromeric, and seg-dup regions""") @@ -45,13 +46,8 @@ ## Strip the trailing spaces for each line stripped_content = [i.rstrip() for i in file.readlines()] - ## If the file is TAB delimited, split the file up by TABs - if stripped_content[0].find('\t') != -1: - final_content = [i.split('\t') for i in stripped_content] - - ## If the file is space delimited, split the file up by the spaces - else: - final_content = [i.split() for i in stripped_content] + ## Split each line up by any white space between columns + final_content = [re.split('\s+',i) for i in stripped_content] ## If the 1st column has '1' instead of 'chr1' for the chromosome number, add in 'chr' if final_content[0][0].find('chr') == -1: @@ -67,13 +63,8 @@ ## Strip the trailing spaces for each line reference_stripped = [i.rstrip() for i in file.readlines()] - ## If the file is TAB delimited, split the file up by TABs - if reference_stripped[0].find('\t') != 1: - fin_reference_file = [i.split('\t') for i in reference_stripped] - - ## If the file is space delimited, split the file up by the spaces - else: - fin_reference_file = [i.split() for i in reference_stripped] + ## Split each line up by any white space between columns + fin_reference_file = [re.split('\s+',i) for i in reference_stripped] ## If the 1st column has '1' instead of 'chr1' for the chromosome number, add in 'chr' if fin_reference_file[0][0].find('chr') == -1: From 049e179c673578147694aca2974eb00d9b31c679 Mon Sep 17 00:00:00 2001 From: Duong Date: Tue, 17 Dec 2019 03:52:47 -0500 Subject: [PATCH 15/19] add black_list generating script --- .../scripts/IGLL_telo_centromeric_region.txt | 678 + .../{ => src/scripts}/generate_black_list.sh | 10 +- .../src/scripts/segdup_95 | 25948 ++++++++++++++++ 3 files changed, 26635 insertions(+), 1 deletion(-) create mode 100644 analyses/copy_number_consensus_call/src/scripts/IGLL_telo_centromeric_region.txt rename analyses/copy_number_consensus_call/{ => src/scripts}/generate_black_list.sh (53%) create mode 100644 analyses/copy_number_consensus_call/src/scripts/segdup_95 diff --git a/analyses/copy_number_consensus_call/src/scripts/IGLL_telo_centromeric_region.txt b/analyses/copy_number_consensus_call/src/scripts/IGLL_telo_centromeric_region.txt new file mode 100644 index 0000000000..7c9f36db45 --- /dev/null +++ b/analyses/copy_number_consensus_call/src/scripts/IGLL_telo_centromeric_region.txt @@ -0,0 +1,678 @@ +chr1 0 500000 telo +chr1 121700000 123400000 p11.1 acen +chr1 123400000 125100000 q11 acen +chr1 125100000 143200000 q12 gvar +chr1 248456422 248956422 telo +chr10 0 500000 p15.3 telo +chr10 38000000 39800000 p11.1 acen +chr10 39800000 41600000 q11.1 acen +chr10 133297422 133797422 q26.3 telo +chr10_GL383545v1_alt 0 179254 gneg +chr10_GL383546v1_alt 0 309802 gneg +chr10_KI270824v1_alt 0 181496 gneg +chr10_KI270825v1_alt 0 188315 gneg +chr10_KN196480v1_fix 0 277797 gneg +chr10_KN538365v1_fix 0 14347 gneg +chr10_KN538366v1_fix 0 85284 gneg +chr10_KN538367v1_fix 0 420164 gneg +chr10_KQ090020v1_alt 0 185507 gneg +chr10_KQ090021v1_fix 0 264545 gneg +chr11 0 500000 p15.5 telo +chr11 51000000 53400000 p11.11 acen +chr11 53400000 55800000 q11 acen +chr11 134586622 135086622 q25 telo +chr11_GL383547v1_alt 0 154407 gneg +chr11_JH159136v1_alt 0 200998 gneg +chr11_JH159137v1_alt 0 191409 gneg +chr11_KI270721v1_random 0 100316 gneg +chr11_KI270826v1_alt 0 186169 gneg +chr11_KI270827v1_alt 0 67707 gneg +chr11_KI270829v1_alt 0 204059 gneg +chr11_KI270830v1_alt 0 177092 gneg +chr11_KI270831v1_alt 0 296895 gneg +chr11_KI270832v1_alt 0 210133 gneg +chr11_KI270902v1_alt 0 106711 gneg +chr11_KI270903v1_alt 0 214625 gneg +chr11_KI270927v1_alt 0 218612 gneg +chr11_KN196481v1_fix 0 108875 gneg +chr11_KN538368v1_alt 0 203552 gneg +chr11_KQ090022v1_fix 0 181958 gneg +chr11_KQ759759v1_fix 0 196940 gneg +chr11_KV766195v1_fix 0 140877 gneg +chr11_KZ559108v1_fix 0 305244 gneg +chr11_KZ559109v1_fix 0 279644 gneg +chr11_KZ559110v1_alt 0 301637 gneg +chr11_KZ559111v1_alt 0 181167 gneg +chr12 0 500000 p13.33 telo +chr12 33200000 35500000 p11.1 acen +chr12 35500000 37800000 q11 acen +chr12 132775309 133275309 q24.33 telo +chr12_GL383549v1_alt 0 120804 gneg +chr12_GL383550v2_alt 0 169178 gneg +chr12_GL383551v1_alt 0 184319 gneg +chr12_GL383552v1_alt 0 138655 gneg +chr12_GL383553v2_alt 0 152874 gneg +chr12_GL877875v1_alt 0 167313 gneg +chr12_GL877876v1_alt 0 408271 gneg +chr12_KI270833v1_alt 0 76061 gneg +chr12_KI270834v1_alt 0 119498 gneg +chr12_KI270835v1_alt 0 238139 gneg +chr12_KI270836v1_alt 0 56134 gneg +chr12_KI270837v1_alt 0 40090 gneg +chr12_KI270904v1_alt 0 572349 gneg +chr12_KN196482v1_fix 0 211377 gneg +chr12_KN538369v1_fix 0 541038 gneg +chr12_KN538370v1_fix 0 86533 gneg +chr12_KQ090023v1_alt 0 109323 gneg +chr12_KQ759760v1_fix 0 315610 gneg +chr12_KZ208916v1_fix 0 1046838 gneg +chr12_KZ208917v1_fix 0 64689 gneg +chr12_KZ208918v1_alt 0 174808 gneg +chr12_KZ559112v1_alt 0 154139 gneg +chr13 0 500000 p13 telo +chr13 16500000 17700000 p11.1 acen +chr13 17700000 18900000 q11 acen +chr13 113864328 114364328 q34 telo +chr13_KI270838v1_alt 0 306913 gneg +chr13_KI270839v1_alt 0 180306 gneg +chr13_KI270840v1_alt 0 191684 gneg +chr13_KI270841v1_alt 0 169134 gneg +chr13_KI270842v1_alt 0 37287 gneg +chr13_KI270843v1_alt 0 103832 gneg +chr13_KN196483v1_fix 0 35455 gneg +chr13_KN538371v1_fix 0 206320 gneg +chr13_KN538372v1_fix 0 356766 gneg +chr13_KN538373v1_fix 0 148762 gneg +chr13_KQ090024v1_alt 0 168146 gneg +chr13_KQ090025v1_alt 0 123480 gneg +chr14 0 500000 p13 telo +chr14 16100000 17200000 p11.1 acen +chr14 17200000 18200000 q11.1 acen +chr14 21676543 22556766 +chr14 105586437 107043718 q32.33 telo +chr14_GL000009v2_random 0 201709 gneg +chr14_GL000194v1_random 0 191469 gneg +chr14_GL000225v1_random 0 211173 gneg +chr14_KI270722v1_random 0 194050 gneg +chr14_KI270723v1_random 0 38115 gneg +chr14_KI270724v1_random 0 39555 gneg +chr14_KI270725v1_random 0 172810 gneg +chr14_KI270726v1_random 0 43739 gneg +chr14_KI270844v1_alt 0 322166 gneg +chr14_KI270845v1_alt 0 180703 gneg +chr14_KI270846v1_alt 0 1351393 gneg +chr14_KI270847v1_alt 0 1511111 gneg +chr14_KZ208919v1_alt 0 171798 gneg +chr14_KZ208920v1_fix 0 690932 gneg +chr15 0 500000 p13 telo +chr15 17500000 19000000 p11.1 acen +chr15 19000000 20500000 q11.1 acen +chr15 101491189 101991189 q26.3 telo +chr15_GL383554v1_alt 0 296527 gneg +chr15_GL383555v2_alt 0 388773 gneg +chr15_KI270727v1_random 0 448248 gneg +chr15_KI270848v1_alt 0 327382 gneg +chr15_KI270849v1_alt 0 244917 gneg +chr15_KI270850v1_alt 0 430880 gneg +chr15_KI270851v1_alt 0 263054 gneg +chr15_KI270852v1_alt 0 478999 gneg +chr15_KI270905v1_alt 0 5161414 gneg +chr15_KI270906v1_alt 0 196384 gneg +chr15_KN538374v1_fix 0 4998962 gneg +chr15_KQ031389v1_alt 0 2365364 gneg +chr16 0 500000 p13.3 telo +chr16 35300000 36800000 p11.1 acen +chr16 36800000 38400000 q11.1 acen +chr16 38400000 47000000 q11.2 gvar +chr16 89838345 90338345 q24.3 telo +chr16_GL383556v1_alt 0 192462 gneg +chr16_GL383557v1_alt 0 89672 gneg +chr16_KI270728v1_random 0 1872759 gneg +chr16_KI270853v1_alt 0 2659700 gneg +chr16_KI270854v1_alt 0 134193 gneg +chr16_KI270855v1_alt 0 232857 gneg +chr16_KI270856v1_alt 0 63982 gneg +chr16_KQ031390v1_alt 0 169136 gneg +chr16_KQ090026v1_alt 0 59016 gneg +chr16_KQ090027v1_alt 0 267463 gneg +chr16_KV880768v1_fix 0 1927115 gneg +chr16_KZ208921v1_alt 0 78609 gneg +chr16_KZ559113v1_fix 0 480415 gneg +chr17 0 500000 p13.3 telo +chr17 22700000 25100000 p11.1 acen +chr17 25100000 27400000 q11.1 acen +chr17 82757441 83257441 q25.3 telo +chr17_GL000205v2_random 0 185591 gneg +chr17_GL000258v2_alt 0 1821992 gneg +chr17_GL383563v3_alt 0 375691 gneg +chr17_GL383564v2_alt 0 133151 gneg +chr17_GL383565v1_alt 0 223995 gneg +chr17_GL383566v1_alt 0 90219 gneg +chr17_JH159146v1_alt 0 278131 gneg +chr17_JH159147v1_alt 0 70345 gneg +chr17_JH159148v1_alt 0 88070 gneg +chr17_KI270729v1_random 0 280839 gneg +chr17_KI270730v1_random 0 112551 gneg +chr17_KI270857v1_alt 0 2877074 gneg +chr17_KI270858v1_alt 0 235827 gneg +chr17_KI270859v1_alt 0 108763 gneg +chr17_KI270860v1_alt 0 178921 gneg +chr17_KI270861v1_alt 0 196688 gneg +chr17_KI270862v1_alt 0 391357 gneg +chr17_KI270907v1_alt 0 137721 gneg +chr17_KI270908v1_alt 0 1423190 gneg +chr17_KI270909v1_alt 0 325800 gneg +chr17_KI270910v1_alt 0 157099 gneg +chr17_KV575245v1_fix 0 154723 gneg +chr17_KV766196v1_fix 0 281919 gneg +chr17_KV766197v1_alt 0 246895 gneg +chr17_KV766198v1_alt 0 276292 gneg +chr17_KZ559114v1_alt 0 116753 gneg +chr18 0 500000 p11.32 telo +chr18 15400000 18500000 p11.1 acen +chr18 18500000 21500000 q11.1 acen +chr18 79873285 80373285 q23 telo +chr18_GL383567v1_alt 0 289831 gneg +chr18_GL383568v1_alt 0 104552 gneg +chr18_GL383569v1_alt 0 167950 gneg +chr18_GL383570v1_alt 0 164789 gneg +chr18_GL383571v1_alt 0 198278 gneg +chr18_GL383572v1_alt 0 159547 gneg +chr18_KI270863v1_alt 0 167999 gneg +chr18_KI270864v1_alt 0 111737 gneg +chr18_KI270911v1_alt 0 157710 gneg +chr18_KI270912v1_alt 0 174061 gneg +chr18_KQ090028v1_fix 0 407387 gneg +chr18_KQ458385v1_alt 0 205101 gneg +chr18_KZ208922v1_fix 0 93070 gneg +chr18_KZ559115v1_fix 0 230843 gneg +chr18_KZ559116v1_alt 0 163186 gneg +chr19 0 500000 p13.3 telo +chr19 24200000 26200000 p11 acen +chr19 26200000 28100000 q11 acen +chr19 58117616 58617616 q13.43 telo +chr19_GL000209v2_alt 0 177381 gneg +chr19_GL383573v1_alt 0 385657 gneg +chr19_GL383574v1_alt 0 155864 gneg +chr19_GL383575v2_alt 0 170222 gneg +chr19_GL383576v1_alt 0 188024 gneg +chr19_GL949746v1_alt 0 987716 gneg +chr19_GL949747v2_alt 0 729520 gneg +chr19_GL949748v2_alt 0 1064304 gneg +chr19_GL949749v2_alt 0 1091841 gneg +chr19_GL949750v2_alt 0 1066390 gneg +chr19_GL949751v2_alt 0 1002683 gneg +chr19_GL949752v1_alt 0 987100 gneg +chr19_GL949753v2_alt 0 796479 gneg +chr19_KI270865v1_alt 0 52969 gneg +chr19_KI270866v1_alt 0 43156 gneg +chr19_KI270867v1_alt 0 233762 gneg +chr19_KI270868v1_alt 0 61734 gneg +chr19_KI270882v1_alt 0 248807 gneg +chr19_KI270883v1_alt 0 170399 gneg +chr19_KI270884v1_alt 0 157053 gneg +chr19_KI270885v1_alt 0 171027 gneg +chr19_KI270886v1_alt 0 204239 gneg +chr19_KI270887v1_alt 0 209512 gneg +chr19_KI270888v1_alt 0 155532 gneg +chr19_KI270889v1_alt 0 170698 gneg +chr19_KI270890v1_alt 0 184499 gneg +chr19_KI270891v1_alt 0 170680 gneg +chr19_KI270914v1_alt 0 205194 gneg +chr19_KI270915v1_alt 0 170665 gneg +chr19_KI270916v1_alt 0 184516 gneg +chr19_KI270917v1_alt 0 190932 gneg +chr19_KI270918v1_alt 0 123111 gneg +chr19_KI270919v1_alt 0 170701 gneg +chr19_KI270920v1_alt 0 198005 gneg +chr19_KI270921v1_alt 0 282224 gneg +chr19_KI270922v1_alt 0 187935 gneg +chr19_KI270923v1_alt 0 189352 gneg +chr19_KI270929v1_alt 0 186203 gneg +chr19_KI270930v1_alt 0 200773 gneg +chr19_KI270931v1_alt 0 170148 gneg +chr19_KI270932v1_alt 0 215732 gneg +chr19_KI270933v1_alt 0 170537 gneg +chr19_KI270938v1_alt 0 1066800 gneg +chr19_KN196484v1_fix 0 370917 gneg +chr19_KQ458386v1_fix 0 405389 gneg +chr19_KV575246v1_alt 0 163926 gneg +chr19_KV575247v1_alt 0 170206 gneg +chr19_KV575248v1_alt 0 168131 gneg +chr19_KV575249v1_alt 0 293522 gneg +chr19_KV575250v1_alt 0 241058 gneg +chr19_KV575251v1_alt 0 159285 gneg +chr19_KV575252v1_alt 0 178197 gneg +chr19_KV575253v1_alt 0 166713 gneg +chr19_KV575254v1_alt 0 99845 gneg +chr19_KV575255v1_alt 0 161095 gneg 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gneg +chr1_KN196474v1_fix 0 122022 gneg +chr1_KN538360v1_fix 0 460100 gneg +chr1_KN538361v1_fix 0 305542 gneg +chr1_KQ031383v1_fix 0 467143 gneg +chr1_KQ458382v1_alt 0 141019 gneg +chr1_KQ458383v1_alt 0 349938 gneg +chr1_KQ458384v1_alt 0 212205 gneg +chr1_KQ983255v1_alt 0 278659 gneg +chr1_KV880763v1_alt 0 551020 gneg +chr1_KZ208904v1_alt 0 166136 gneg +chr1_KZ208905v1_alt 0 140355 gneg +chr1_KZ208906v1_fix 0 330031 gneg +chr1_KZ559100v1_fix 0 44955 gneg +chr2 0 500000 p25.3 telo +chr2 88854372 89330679 +chr2 91800000 93900000 p11.1 acen +chr2 93900000 96000000 q11.1 acen +chr2 241693529 242193529 q37.3 telo +chr20 0 500000 p13 telo +chr20 25700000 28100000 p11.1 acen +chr20 28100000 30400000 q11.1 acen +chr20 63944167 64444167 q13.33 telo +chr20_GL383577v2_alt 0 128386 gneg +chr20_KI270869v1_alt 0 118774 gneg +chr20_KI270870v1_alt 0 183433 gneg +chr20_KI270871v1_alt 0 58661 gneg +chr21 0 3100000 p13 gvar +chr21 0 500000 p13 telo +chr21 3100000 7000000 p12 stalk +chr21 7000000 10900000 p11.2 gvar +chr21 10900000 12000000 p11.1 acen +chr21 12000000 13000000 q11.1 acen +chr21 46209983 46709983 q22.3 telo +chr21_GL383578v2_alt 0 63917 gneg +chr21_GL383579v2_alt 0 201197 gneg +chr21_GL383580v2_alt 0 74653 gneg +chr21_GL383581v2_alt 0 116689 gneg +chr21_KI270872v1_alt 0 82692 gneg +chr21_KI270873v1_alt 0 143900 gneg +chr21_KI270874v1_alt 0 166743 gneg +chr22 0 500000 p13 telo +chr22 13700000 15000000 p11.1 acen +chr22 15000000 17400000 q11.1 acen +chr22 21990603 22947816 +chr22 50318468 50818468 q13.33 telo +chr22_GL383582v2_alt 0 162811 gneg +chr22_GL383583v2_alt 0 96924 gneg +chr22_KB663609v1_alt 0 74013 gneg +chr22_KI270731v1_random 0 150754 gneg +chr22_KI270732v1_random 0 41543 gneg +chr22_KI270733v1_random 0 179772 gneg +chr22_KI270734v1_random 0 165050 gneg +chr22_KI270735v1_random 0 42811 gneg +chr22_KI270736v1_random 0 181920 gneg +chr22_KI270737v1_random 0 103838 gneg +chr22_KI270738v1_random 0 99375 gneg +chr22_KI270739v1_random 0 73985 gneg 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451168 gneg +chr3_KN196476v1_fix 0 305979 gneg +chr3_KN538364v1_fix 0 415308 gneg +chr3_KQ031385v1_fix 0 373699 gneg +chr3_KQ031386v1_fix 0 165718 gneg +chr3_KV766192v1_fix 0 411654 gneg +chr3_KZ208909v1_alt 0 175849 gneg +chr3_KZ559101v1_alt 0 164041 gneg +chr3_KZ559102v1_alt 0 197752 gneg +chr3_KZ559103v1_alt 0 302885 gneg +chr3_KZ559104v1_fix 0 105527 gneg +chr3_KZ559105v1_alt 0 195063 gneg +chr4 0 500000 p16.3 telo +chr4 48200000 50000000 p11 acen +chr4 50000000 51800000 q11 acen +chr4 189714555 190214555 q35.2 telo +chr4_GL000008v2_random 0 209709 gneg +chr4_GL000257v2_alt 0 586476 gneg +chr4_GL383527v1_alt 0 164536 gneg +chr4_GL383528v1_alt 0 376187 gneg +chr4_KI270785v1_alt 0 119912 gneg +chr4_KI270786v1_alt 0 244096 gneg +chr4_KI270787v1_alt 0 111943 gneg +chr4_KI270788v1_alt 0 158965 gneg +chr4_KI270789v1_alt 0 205944 gneg +chr4_KI270790v1_alt 0 220246 gneg +chr4_KI270896v1_alt 0 378547 gneg +chr4_KI270925v1_alt 0 555799 gneg +chr4_KQ090013v1_alt 0 90922 gneg +chr4_KQ090014v1_alt 0 163749 gneg +chr4_KQ090015v1_alt 0 236512 gneg +chr4_KQ983257v1_fix 0 230434 gneg +chr4_KQ983258v1_alt 0 205407 gneg +chr4_KV766193v1_alt 0 420675 gneg +chr5 0 500000 p15.33 telo +chr5 46100000 48800000 p11 acen +chr5 48800000 51400000 q11.1 acen +chr5 181038259 181538259 q35.3 telo +chr5_GL000208v1_random 0 92689 gneg +chr5_GL339449v2_alt 0 1612928 gneg +chr5_GL383530v1_alt 0 101241 gneg +chr5_GL383531v1_alt 0 173459 gneg +chr5_GL383532v1_alt 0 82728 gneg +chr5_GL949742v1_alt 0 226852 gneg +chr5_KI270791v1_alt 0 195710 gneg +chr5_KI270792v1_alt 0 179043 gneg +chr5_KI270793v1_alt 0 126136 gneg +chr5_KI270794v1_alt 0 164558 gneg +chr5_KI270795v1_alt 0 131892 gneg +chr5_KI270796v1_alt 0 172708 gneg +chr5_KI270897v1_alt 0 1144418 gneg +chr5_KI270898v1_alt 0 130957 gneg +chr5_KN196477v1_alt 0 139087 gneg +chr5_KV575243v1_alt 0 362221 gneg +chr5_KV575244v1_fix 0 673059 gneg +chr5_KZ208910v1_alt 0 135987 gneg +chr6 0 500000 p25.3 telo +chr6 29699244 33149245 +chr6 58500000 59800000 p11.1 acen +chr6 59800000 62600000 q11.1 acen +chr6 170305979 170805979 q27 telo +chr6_GL000250v2_alt 0 4672374 gneg +chr6_GL000251v2_alt 0 4795265 gneg +chr6_GL000252v2_alt 0 4604811 gneg +chr6_GL000253v2_alt 0 4677643 gneg +chr6_GL000254v2_alt 0 4827813 gneg +chr6_GL000255v2_alt 0 4606388 gneg +chr6_GL000256v2_alt 0 4929269 gneg +chr6_GL383533v1_alt 0 124736 gneg +chr6_KB021644v2_alt 0 185823 gneg +chr6_KI270758v1_alt 0 76752 gneg +chr6_KI270797v1_alt 0 197536 gneg +chr6_KI270798v1_alt 0 271782 gneg +chr6_KI270799v1_alt 0 152148 gneg +chr6_KI270800v1_alt 0 175808 gneg +chr6_KI270801v1_alt 0 870480 gneg +chr6_KI270802v1_alt 0 75005 gneg +chr6_KN196478v1_fix 0 268330 gneg +chr6_KQ031387v1_fix 0 320750 gneg +chr6_KQ090016v1_fix 0 245716 gneg +chr6_KQ090017v1_alt 0 82315 gneg +chr6_KV766194v1_fix 0 139427 gneg +chr6_KZ208911v1_fix 0 242796 gneg +chr7 0 500000 p22.3 telo +chr7 58100000 60100000 p11.1 acen +chr7 60100000 62100000 q11.1 acen +chr7 142299011 142813287 +chr7 158845973 159345973 q36.3 telo +chr7_GL383534v2_alt 0 119183 gneg +chr7_KI270803v1_alt 0 1111570 gneg +chr7_KI270804v1_alt 0 157952 gneg +chr7_KI270805v1_alt 0 209988 gneg +chr7_KI270806v1_alt 0 158166 gneg +chr7_KI270807v1_alt 0 126434 gneg +chr7_KI270808v1_alt 0 271455 gneg +chr7_KI270809v1_alt 0 209586 gneg +chr7_KI270899v1_alt 0 190869 gneg +chr7_KQ031388v1_fix 0 179932 gneg +chr7_KV880764v1_fix 0 142129 gneg +chr7_KV880765v1_fix 0 468267 gneg +chr7_KZ208912v1_fix 0 589656 gneg +chr7_KZ208913v1_alt 0 680662 gneg +chr7_KZ559106v1_alt 0 172555 gneg +chr8 0 500000 p23.3 telo +chr8 43200000 45200000 p11.1 acen +chr8 45200000 47200000 q11.1 acen +chr8 144638636 145138636 q24.3 telo +chr8_KI270810v1_alt 0 374415 gneg +chr8_KI270811v1_alt 0 292436 gneg +chr8_KI270812v1_alt 0 282736 gneg +chr8_KI270813v1_alt 0 300230 gneg +chr8_KI270814v1_alt 0 141812 gneg +chr8_KI270815v1_alt 0 132244 gneg +chr8_KI270816v1_alt 0 305841 gneg +chr8_KI270817v1_alt 0 158983 gneg +chr8_KI270818v1_alt 0 145606 gneg +chr8_KI270819v1_alt 0 133535 gneg +chr8_KI270820v1_alt 0 36640 gneg +chr8_KI270821v1_alt 0 985506 gneg +chr8_KI270822v1_alt 0 624492 gneg +chr8_KI270900v1_alt 0 318687 gneg +chr8_KI270901v1_alt 0 136959 gneg +chr8_KI270926v1_alt 0 229282 gneg +chr8_KV880766v1_fix 0 156998 gneg +chr8_KV880767v1_fix 0 265876 gneg +chr8_KZ208914v1_fix 0 165120 gneg +chr8_KZ208915v1_fix 0 6367528 gneg +chr8_KZ559107v1_alt 0 103072 gneg +chr9 0 500000 p24.3 telo +chr9 42200000 43000000 p11.1 acen +chr9 43000000 45500000 q11 acen +chr9 45500000 61500000 q12 gvar +chr9 137894717 138394717 q34.3 telo +chr9_GL383539v1_alt 0 162988 gneg +chr9_GL383540v1_alt 0 71551 gneg +chr9_GL383541v1_alt 0 171286 gneg +chr9_GL383542v1_alt 0 60032 gneg +chr9_KI270717v1_random 0 40062 gneg +chr9_KI270718v1_random 0 38054 gneg +chr9_KI270719v1_random 0 176845 gneg +chr9_KI270720v1_random 0 39050 gneg +chr9_KI270823v1_alt 0 439082 gneg +chr9_KN196479v1_fix 0 330164 gneg +chr9_KQ090018v1_alt 0 163882 gneg +chr9_KQ090019v1_alt 0 134099 gneg +chrM 0 16569 gneg +chrUn_GL000195v1 0 182896 gneg +chrUn_GL000213v1 0 164239 gneg +chrUn_GL000214v1 0 137718 gneg +chrUn_GL000216v2 0 176608 gneg +chrUn_GL000218v1 0 161147 gneg +chrUn_GL000219v1 0 179198 gneg +chrUn_GL000220v1 0 161802 gneg +chrUn_GL000224v1 0 179693 gneg +chrUn_GL000226v1 0 15008 gneg +chrUn_KI270302v1 0 2274 gneg +chrUn_KI270303v1 0 1942 gneg +chrUn_KI270304v1 0 2165 gneg +chrUn_KI270305v1 0 1472 gneg +chrUn_KI270310v1 0 1201 gneg +chrUn_KI270311v1 0 12399 gneg +chrUn_KI270312v1 0 998 gneg +chrUn_KI270315v1 0 2276 gneg +chrUn_KI270316v1 0 1444 gneg +chrUn_KI270317v1 0 37690 gneg +chrUn_KI270320v1 0 4416 gneg +chrUn_KI270322v1 0 21476 gneg +chrUn_KI270329v1 0 1040 gneg +chrUn_KI270330v1 0 1652 gneg +chrUn_KI270333v1 0 2699 gneg +chrUn_KI270334v1 0 1368 gneg +chrUn_KI270335v1 0 1048 gneg +chrUn_KI270336v1 0 1026 gneg +chrUn_KI270337v1 0 1121 gneg +chrUn_KI270338v1 0 1428 gneg +chrUn_KI270340v1 0 1428 gneg +chrUn_KI270362v1 0 3530 gneg +chrUn_KI270363v1 0 1803 gneg +chrUn_KI270364v1 0 2855 gneg +chrUn_KI270366v1 0 8320 gneg +chrUn_KI270371v1 0 2805 gneg +chrUn_KI270372v1 0 1650 gneg +chrUn_KI270373v1 0 1451 gneg +chrUn_KI270374v1 0 2656 gneg +chrUn_KI270375v1 0 2378 gneg +chrUn_KI270376v1 0 1136 gneg +chrUn_KI270378v1 0 1048 gneg +chrUn_KI270379v1 0 1045 gneg +chrUn_KI270381v1 0 1930 gneg +chrUn_KI270382v1 0 4215 gneg +chrUn_KI270383v1 0 1750 gneg +chrUn_KI270384v1 0 1658 gneg +chrUn_KI270385v1 0 990 gneg +chrUn_KI270386v1 0 1788 gneg +chrUn_KI270387v1 0 1537 gneg +chrUn_KI270388v1 0 1216 gneg +chrUn_KI270389v1 0 1298 gneg +chrUn_KI270390v1 0 2387 gneg +chrUn_KI270391v1 0 1484 gneg +chrUn_KI270392v1 0 971 gneg +chrUn_KI270393v1 0 1308 gneg +chrUn_KI270394v1 0 970 gneg +chrUn_KI270395v1 0 1143 gneg +chrUn_KI270396v1 0 1880 gneg +chrUn_KI270411v1 0 2646 gneg +chrUn_KI270412v1 0 1179 gneg +chrUn_KI270414v1 0 2489 gneg +chrUn_KI270417v1 0 2043 gneg +chrUn_KI270418v1 0 2145 gneg +chrUn_KI270419v1 0 1029 gneg +chrUn_KI270420v1 0 2321 gneg +chrUn_KI270422v1 0 1445 gneg +chrUn_KI270423v1 0 981 gneg +chrUn_KI270424v1 0 2140 gneg +chrUn_KI270425v1 0 1884 gneg +chrUn_KI270429v1 0 1361 gneg +chrUn_KI270435v1 0 92983 gneg +chrUn_KI270438v1 0 112505 gneg +chrUn_KI270442v1 0 392061 gneg +chrUn_KI270448v1 0 7992 gneg +chrUn_KI270465v1 0 1774 gneg +chrUn_KI270466v1 0 1233 gneg +chrUn_KI270467v1 0 3920 gneg +chrUn_KI270468v1 0 4055 gneg +chrUn_KI270507v1 0 5353 gneg +chrUn_KI270508v1 0 1951 gneg +chrUn_KI270509v1 0 2318 gneg +chrUn_KI270510v1 0 2415 gneg +chrUn_KI270511v1 0 8127 gneg +chrUn_KI270512v1 0 22689 gneg +chrUn_KI270515v1 0 6361 gneg +chrUn_KI270516v1 0 1300 gneg +chrUn_KI270517v1 0 3253 gneg +chrUn_KI270518v1 0 2186 gneg +chrUn_KI270519v1 0 138126 gneg +chrUn_KI270521v1 0 7642 gneg +chrUn_KI270522v1 0 5674 gneg +chrUn_KI270528v1 0 2983 gneg +chrUn_KI270529v1 0 1899 gneg +chrUn_KI270530v1 0 2168 gneg +chrUn_KI270538v1 0 91309 gneg +chrUn_KI270539v1 0 993 gneg +chrUn_KI270544v1 0 1202 gneg +chrUn_KI270548v1 0 1599 gneg +chrUn_KI270579v1 0 31033 gneg +chrUn_KI270580v1 0 1553 gneg +chrUn_KI270581v1 0 7046 gneg +chrUn_KI270582v1 0 6504 gneg +chrUn_KI270583v1 0 1400 gneg +chrUn_KI270584v1 0 4513 gneg +chrUn_KI270587v1 0 2969 gneg +chrUn_KI270588v1 0 6158 gneg +chrUn_KI270589v1 0 44474 gneg +chrUn_KI270590v1 0 4685 gneg +chrUn_KI270591v1 0 5796 gneg +chrUn_KI270593v1 0 3041 gneg +chrUn_KI270741v1 0 157432 gneg +chrUn_KI270742v1 0 186739 gneg +chrUn_KI270743v1 0 210658 gneg +chrUn_KI270744v1 0 168472 gneg +chrUn_KI270745v1 0 41891 gneg +chrUn_KI270746v1 0 66486 gneg +chrUn_KI270747v1 0 198735 gneg +chrUn_KI270748v1 0 93321 gneg +chrUn_KI270749v1 0 158759 gneg +chrUn_KI270750v1 0 148850 gneg +chrUn_KI270751v1 0 150742 gneg +chrUn_KI270752v1 0 27745 gneg +chrUn_KI270753v1 0 62944 gneg +chrUn_KI270754v1 0 40191 gneg +chrUn_KI270755v1 0 36723 gneg +chrUn_KI270756v1 0 79590 gneg +chrUn_KI270757v1 0 71251 gneg +chrX 0 500000 p22.33 telo +chrX 58100000 61000000 p11.1 acen +chrX 61000000 63800000 q11.1 acen +chrX 155540895 156040895 q28 telo +chrX_KI270880v1_alt 0 284869 gneg +chrX_KI270881v1_alt 0 144206 gneg +chrX_KI270913v1_alt 0 274009 gneg +chrX_KV766199v1_alt 0 188004 gneg +chrY 0 500000 p11.32 telo +chrY 10300000 10400000 p11.1 acen +chrY 10400000 10600000 q11.1 acen +chrY 56727415 57227415 q12 telo +chrY_KI270740v1_random 0 37240 gneg +chrY_KN196487v1_fix 0 101150 gneg +chrY_KZ208923v1_fix 0 48370 gneg +chrY_KZ208924v1_fix 0 209722 gneg diff --git a/analyses/copy_number_consensus_call/generate_black_list.sh b/analyses/copy_number_consensus_call/src/scripts/generate_black_list.sh similarity index 53% rename from analyses/copy_number_consensus_call/generate_black_list.sh rename to analyses/copy_number_consensus_call/src/scripts/generate_black_list.sh index 8253295beb..3d77bd74e6 100644 --- a/analyses/copy_number_consensus_call/generate_black_list.sh +++ b/analyses/copy_number_consensus_call/src/scripts/generate_black_list.sh @@ -10,4 +10,12 @@ -cat +# After having the IGLL_telo_centromeric_region.txt from the method described by Kai Wang, the following were performed to form the black list +# Sort the segdup file and merge it. +sort -k1,1 -k2,2n segdup_95 | bedtools merge > segdup_95_merged + + +# Put the IGLL_telo_centromeric_region.txt and the segdup file together, +# take only the first 3 columns, +# sort them and merge any overlaping segment +cat IGLL_telo_centromeric_region.txt segdup_95_merged | awk -v OFS='\t' '{print$1,$2,$3}' | sort -k1,1 -k2,2n | bedtools merge > bad_chromosomal_seg_updated_merged.txt diff --git a/analyses/copy_number_consensus_call/src/scripts/segdup_95 b/analyses/copy_number_consensus_call/src/scripts/segdup_95 new file mode 100644 index 0000000000..590b9f7d8e --- /dev/null +++ b/analyses/copy_number_consensus_call/src/scripts/segdup_95 @@ -0,0 +1,25948 @@ +chrom chromStart chromEnd name +chr1 16761934 16799163 chr1:234783386 +chr1 120533238 120705592 chr1:148804200 +chr1 120575596 120705592 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121070 chr22:11817376 +chrUn_GL000214v1 103050 119671 chr22:11700516 +chrUn_GL000214v1 103050 119671 chr21:8808959 +chrUn_GL000214v1 103050 119671 chr1_KI270706v1_random:146882 +chrUn_GL000214v1 111322 137718 chr4:49310186 +chrUn_GL000214v1 116705 135222 chrUn_KI270744v1:107850 +chrUn_GL000214v1 116705 125415 chrUn_GL000214v1:129139 +chrUn_GL000214v1 116705 119924 chr22:12175017 +chrUn_GL000214v1 116705 119924 chr22:11813704 +chrUn_GL000214v1 119112 137718 chrUn_GL000224v1:0 +chrUn_GL000214v1 119134 122077 chr22:11697577 +chrUn_GL000214v1 119134 122077 chr21:8806024 +chrUn_GL000214v1 119134 122077 chr1_KI270706v1_random:163608 +chrUn_GL000214v1 122110 123733 chrUn_KI270330v1:9 +chrUn_GL000214v1 122333 126222 chr22:12175017 +chrUn_GL000214v1 122333 126222 chr22:11813161 +chrUn_GL000214v1 122857 129296 chr4:49510093 +chrUn_GL000214v1 122857 127381 chr22:12170507 +chrUn_GL000214v1 122857 127380 chr22:11817376 +chrUn_GL000214v1 122857 125969 chr1_KI270706v1_random:160636 +chrUn_GL000214v1 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chrUn_KI270743v1:181806 +chrUn_GL000218v1 0 33408 chr9:64030903 +chrUn_GL000218v1 0 15497 chr4:49533941 +chrUn_GL000218v1 0 15497 chr4:49246019 +chrUn_GL000218v1 0 23747 chr22:12129049 +chrUn_GL000218v1 0 23747 chr22:11839490 +chrUn_GL000218v1 0 23747 chr21:8829788 +chrUn_GL000218v1 0 26279 chr20:30730557 +chrUn_GL000218v1 0 23747 chr1_KI270706v1_random:119152 +chrUn_GL000218v1 4239 15519 chrUn_KI270751v1:1866 +chrUn_GL000218v1 4239 15519 chrUn_GL000214v1:90824 +chrUn_GL000218v1 5419 23747 chrUn_KI270742v1:0 +chrUn_GL000218v1 14301 61201 chrUn_KI270744v1:59134 +chrUn_GL000218v1 15145 23747 chr14_GL000009v2_random:4 +chrUn_GL000218v1 17557 161146 chr21:9047181 +chrUn_GL000218v1 17557 161146 chr14_GL000194v1_random:32403 +chrUn_GL000218v1 19117 23747 chr4_GL000008v2_random:205066 +chrUn_GL000218v1 31201 33408 chr20:30729698 +chrUn_GL000218v1 52850 61201 chr9:64066130 +chrUn_GL000218v1 52850 61201 chr20:30721322 +chrUn_GL000218v1 61202 161147 chrUn_KI270743v1:4412 +chrUn_GL000218v1 61202 161147 chr4_GL000008v2_random:19711 +chrUn_GL000218v1 61202 100803 chr22:11931640 +chrUn_GL000218v1 61202 96527 chr1_KI270706v1_random:0 +chrUn_GL000218v1 61202 161146 chr14_GL000009v2_random:85764 +chrUn_GL000218v1 61403 66952 chr4:49200004 +chrUn_GL000218v1 61405 72904 chr22:11681288 +chrUn_GL000218v1 61405 99800 chr21:8756715 +chrUn_GL000218v1 63351 161147 chrUn_KI270742v1:69842 +chrUn_GL000218v1 63351 92411 chr3_GL000221v1_random:39893 +chrUn_GL000218v1 63351 92411 chr21:9330919 +chrUn_GL000218v1 65651 89172 chr1_KI270707v1_random:4 +chrUn_GL000218v1 65768 99800 chr22:12776204 +chrUn_GL000218v1 66804 134065 chr1_KI270708v1_random:0 +chrUn_GL000218v1 66804 161147 chr14_KI270722v1_random:3922 +chrUn_GL000218v1 66818 102150 chr4:49156631 +chrUn_GL000218v1 66837 84938 chrUn_GL000224v1:19441 +chrUn_GL000218v1 68623 89172 chr4:49600000 +chrUn_GL000218v1 74350 153126 chr22:12042163 +chrUn_GL000218v1 85159 161147 chrUn_KI270751v1:54538 +chrUn_GL000218v1 92154 161146 chr3_GL000221v1_random:74862 +chrUn_GL000218v1 92154 161147 chr21:9261295 +chrUn_GL000218v1 92166 127825 chrUn_GL000214v1:0 +chrUn_GL000218v1 98686 145217 chr22:12178929 +chrUn_GL000218v1 98686 137235 chr22:11774629 +chrUn_GL000218v1 125147 161147 chr22:12868792 +chrUn_GL000218v1 127901 159685 chr22:12694103 +chrUn_GL000218v1 132069 161146 chr1_KI270710v1_random:0 +chrUn_GL000218v1 132615 143161 chr14_GL000225v1_random:200636 +chrUn_GL000218v1 146039 161146 chr22:12028037 +chrUn_GL000219v1 176 38522 chrUn_KI270741v1:118607 +chrUn_GL000219v1 48624 50135 chr20:29538727 +chrUn_GL000219v1 51325 91051 chr20:29452157 +chrUn_GL000219v1 51698 136446 chr20:30346078 +chrUn_GL000219v1 71885 104846 chr22:10933710 +chrUn_GL000219v1 71896 160675 chr22:12546288 +chrUn_GL000219v1 75680 84254 chr9_KI270718v1_random:22210 +chrUn_GL000219v1 75680 157011 chr9:63830172 +chrUn_GL000219v1 75680 84254 chr9:41211431 +chrUn_GL000219v1 75842 84254 chr9:65645191 +chrUn_GL000219v1 84246 163602 chr9:40930670 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chr9:63896299 +chrUn_KI270448v1 5740 7991 chr9:40953479 +chrUn_KI270448v1 5740 7988 chr22:12568653 +chrUn_KI270448v1 5740 7988 chr22:12293886 +chrUn_KI270448v1 5740 7992 chr21:5227906 +chrUn_KI270448v1 5741 7992 chrUn_GL000219v1:140290 +chrUn_KI270521v1 5251 7642 chr9:63896165 +chrUn_KI270521v1 5251 7641 chr9:40953479 +chrUn_KI270521v1 5251 7641 chr22:12568653 +chrUn_KI270521v1 5251 7642 chr22:12293748 +chrUn_KI270521v1 5252 7642 chrUn_GL000219v1:140156 +chrUn_KI270579v1 0 31032 chr21:5260543 +chrUn_KI270579v1 2691 31032 chr21:7200002 +chrUn_KI270741v1 0 121933 chrUn_GL000224v1:58102 +chrUn_KI270741v1 118607 157431 chrUn_GL000219v1:176 +chrUn_KI270742v1 0 17061 chrY:11122873 +chrUn_KI270742v1 0 10101 chrUn_KI270751v1:3037 +chrUn_KI270742v1 0 18708 chrUn_GL000218v1:5419 +chrUn_KI270742v1 0 10101 chrUn_GL000214v1:90824 +chrUn_KI270742v1 0 18715 chr9:64036309 +chrUn_KI270742v1 0 10079 chr4:49539352 +chrUn_KI270742v1 0 10079 chr4:49246019 +chrUn_KI270742v1 0 21088 chr22:12126660 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chr21:27844216 +chr22_KI270737v1_random 82071 86597 chr18:15160733 +chr22_KI270737v1_random 83205 85580 chr7:62397628 +chr22_KI270737v1_random 83378 84831 chr22:16302843 +chr22_KI270737v1_random 84299 103838 chr7:60962652 +chr22_KI270737v1_random 84300 98287 chrUn_KI270747v1:18728 +chr22_KI270737v1_random 84300 99088 chrUn_KI270746v1:0 +chr22_KI270737v1_random 84300 91026 chr9_KI270717v1_random:33126 +chr22_KI270737v1_random 84300 98287 chr9:65740027 +chr22_KI270737v1_random 84300 98287 chr9:65267292 +chr22_KI270737v1_random 84300 100605 chr9:64783480 +chr22_KI270737v1_random 84300 103838 chr9:63459343 +chr22_KI270737v1_random 84300 98287 chr9:43290150 +chr22_KI270737v1_random 84300 103838 chr9:40659935 +chr22_KI270737v1_random 84300 101322 chr7:65581158 +chr22_KI270737v1_random 84300 92424 chr7:65106623 +chr22_KI270737v1_random 84300 95216 chr2:94281863 +chr22_KI270737v1_random 84300 98287 chr2:92051951 +chr22_KI270737v1_random 84300 102097 chr2:91782774 +chr22_KI270737v1_random 84300 103838 chr2:91449125 +chr22_KI270737v1_random 84300 103838 chr2:90334622 +chr22_KI270737v1_random 84300 97365 chr1_KI270712v1_random:7207 +chr22_KI270737v1_random 84300 103838 chr1_KI270709v1_random:45975 +chr22_KI270737v1_random 84300 103838 chr17:26737891 +chr22_KI270737v1_random 84300 103837 chr16_KI270728v1_random:1082572 +chr22_KI270737v1_random 84300 97567 chr16:46435641 +chr22_KI270737v1_random 84300 90941 chr16:33042575 +chr22_KI270737v1_random 84300 103837 chr16:32820465 +chr22_KI270737v1_random 84300 90941 chr16:32099293 +chr22_KI270737v1_random 84300 98287 chr15:19921039 +chr22_KI270737v1_random 84300 98287 chr14_KI270725v1_random:102660 +chr22_KI270737v1_random 84300 103837 chr10:42120063 +chr22_KI270737v1_random 84300 90941 chr1:125096232 +chr22_KI270737v1_random 84302 98287 chr16:34779380 +chr22_KI270737v1_random 84307 98287 chrUn_KI270749v1:49803 +chr22_KI270737v1_random 84307 98287 chr22:10549186 +chr22_KI270737v1_random 84307 98287 chr21:8572284 +chr22_KI270737v1_random 85001 103838 chr22_KI270732v1_random:3917 +chr22_KI270737v1_random 86197 103835 chr7:62251883 +chr22_KI270737v1_random 88512 98287 chr16_KI270728v1_random:1040285 +chr22_KI270737v1_random 88512 98287 chr16:33082374 +chr22_KI270737v1_random 88512 98287 chr16:32778036 +chr22_KI270737v1_random 88512 98287 chr16:32139455 +chr22_KI270737v1_random 90767 98287 chr1:144610215 +chr22_KI270737v1_random 90767 98287 chr1:144348769 +chr22_KI270737v1_random 98120 103837 chr16:36090166 +chr22_KI270737v1_random 98716 103838 chr1:125125122 +chr22_KI270738v1_random 0 5258 chr17:26731388 +chr22_KI270738v1_random 0 5247 chr16:36096587 +chr22_KI270738v1_random 2138 5203 chr16:33024975 +chr22_KI270738v1_random 2138 5203 chr16:32081722 +chr22_KI270738v1_random 6180 24145 chr7:62358864 +chr22_KI270738v1_random 6180 19506 chr1:125104148 +chr22_KI270738v1_random 6257 26911 chr2:91421739 +chr22_KI270738v1_random 6352 16107 chr17:26721396 +chr22_KI270738v1_random 6375 19506 chr16:33029194 +chr22_KI270738v1_random 6388 26389 chr7:58066359 +chr22_KI270738v1_random 6390 19506 chr16:32085935 +chr22_KI270738v1_random 6399 9459 chr7:60952478 +chr22_KI270738v1_random 6444 25020 chr2:132010341 +chr22_KI270738v1_random 6445 12821 chrUn_KI270747v1:32859 +chr22_KI270738v1_random 6445 12821 chr9:43304281 +chr22_KI270738v1_random 6447 12822 chr10:42113366 +chr22_KI270738v1_random 6448 19642 chr10:42150945 +chr22_KI270738v1_random 6462 12735 chr17:26767040 +chr22_KI270738v1_random 6462 22500 chr17:21825845 +chr22_KI270738v1_random 12978 25020 chr17:21783458 +chr22_KI270738v1_random 13749 21627 chr16_KI270728v1_random:1563154 +chr22_KI270738v1_random 13749 21627 chr16:33715001 +chr22_KI270738v1_random 14934 25020 chr17:26971585 +chr22_KI270738v1_random 17359 21206 chr17:26716619 From cdd50a6982ba17cc9f20531564601642dc940fa9 Mon Sep 17 00:00:00 2001 From: Nhat Duong Date: Tue, 17 Dec 2019 13:21:21 -0500 Subject: [PATCH 16/19] Update analyses/copy_number_consensus_call/src/scripts/generate_black_list.sh Co-Authored-By: jashapiro --- .../src/scripts/generate_black_list.sh | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/analyses/copy_number_consensus_call/src/scripts/generate_black_list.sh b/analyses/copy_number_consensus_call/src/scripts/generate_black_list.sh index 3d77bd74e6..edacc06e56 100644 --- a/analyses/copy_number_consensus_call/src/scripts/generate_black_list.sh +++ b/analyses/copy_number_consensus_call/src/scripts/generate_black_list.sh @@ -18,4 +18,4 @@ sort -k1,1 -k2,2n segdup_95 | bedtools merge > segdup_95_merged # Put the IGLL_telo_centromeric_region.txt and the segdup file together, # take only the first 3 columns, # sort them and merge any overlaping segment -cat IGLL_telo_centromeric_region.txt segdup_95_merged | awk -v OFS='\t' '{print$1,$2,$3}' | sort -k1,1 -k2,2n | bedtools merge > bad_chromosomal_seg_updated_merged.txt +cat IGLL_telo_centromeric_region.txt segdup_95_merged | awk -v OFS='\t' '{print$1,$2,$3}' | sort -k1,1 -k2,2n | bedtools merge > bad_chromosomal_seg_updated_merged.bed From 76c9806de09e078f0fa086e68d56b1a861de3428 Mon Sep 17 00:00:00 2001 From: Duong Date: Tue, 17 Dec 2019 13:33:54 -0500 Subject: [PATCH 17/19] changed extension to bed --- analyses/copy_number_consensus_call/Snakefile | 2 +- .../src/scripts/generate_black_list.sh | 3 ++- 2 files changed, 3 insertions(+), 2 deletions(-) diff --git a/analyses/copy_number_consensus_call/Snakefile b/analyses/copy_number_consensus_call/Snakefile index 94df793a29..de1eda7075 100644 --- a/analyses/copy_number_consensus_call/Snakefile +++ b/analyses/copy_number_consensus_call/Snakefile @@ -96,7 +96,7 @@ rule filter_telomeres: input: ## Define the location of the input file and take the path/extension from the config file script=os.path.join(config["scripts"], "get_rid_bad_segments.py"), - bad_list=os.path.join(config["scripts"], "bad_chromosomal_seg_updated_merged.txt"), + bad_list=os.path.join(config["scripts"], "bad_chromosomal_seg_updated_merged.bed"), bedfile="../../scratch/interim/{sample}.{caller}.{dupdel}.bed" output: ## Define the output files' names diff --git a/analyses/copy_number_consensus_call/src/scripts/generate_black_list.sh b/analyses/copy_number_consensus_call/src/scripts/generate_black_list.sh index edacc06e56..cf423f2edb 100644 --- a/analyses/copy_number_consensus_call/src/scripts/generate_black_list.sh +++ b/analyses/copy_number_consensus_call/src/scripts/generate_black_list.sh @@ -5,7 +5,8 @@ # There are two components to this file the "IGLL regions, centromeric and telomeric regions" and the "segmental duplication regions" # 1) The IGLL regions, centromeric and telomeric regions are generated from the practice described by Kai Wang at his PennCNV website http://penncnv.openbioinformatics.org/en/latest/misc/faq/ -# 2) The segmental duplication are downloaded from UCSC genome browser. The segmental duplication with 95% identity was downloaded and merged. +# 2) The segmental duplication are downloaded from UCSC genome browser. The segmental duplication with 95% identity was downloaded and merged. + The tracked used for this is here https://genome.ucsc.edu/cgi-bin/hgTrackUi?hgsid=783211655_qnHWS1w9VWkUebtWb7482jKHTMF8&c=chr1&g=genomicSuperDups # 3) In the end, everything was put together into one file, sorted and merged. From e00ca9b046651430c20c5f224b408bbbcbcf61a8 Mon Sep 17 00:00:00 2001 From: jashapiro Date: Tue, 17 Dec 2019 14:36:40 -0500 Subject: [PATCH 18/19] Rename bad_chromosomal_seg_updated_merged.txt to bad_chromosomal_seg_updated_merged.bed --- ..._updated_merged.txt => bad_chromosomal_seg_updated_merged.bed} | 0 1 file changed, 0 insertions(+), 0 deletions(-) rename analyses/copy_number_consensus_call/src/scripts/{bad_chromosomal_seg_updated_merged.txt => bad_chromosomal_seg_updated_merged.bed} (100%) diff --git a/analyses/copy_number_consensus_call/src/scripts/bad_chromosomal_seg_updated_merged.txt b/analyses/copy_number_consensus_call/src/scripts/bad_chromosomal_seg_updated_merged.bed similarity index 100% rename from analyses/copy_number_consensus_call/src/scripts/bad_chromosomal_seg_updated_merged.txt rename to analyses/copy_number_consensus_call/src/scripts/bad_chromosomal_seg_updated_merged.bed From e6d20f39e233e42ae5b0bb153f60e5079c907e2b Mon Sep 17 00:00:00 2001 From: jashapiro Date: Tue, 17 Dec 2019 15:01:57 -0500 Subject: [PATCH 19/19] Comment line --- .../src/scripts/generate_black_list.sh | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/analyses/copy_number_consensus_call/src/scripts/generate_black_list.sh b/analyses/copy_number_consensus_call/src/scripts/generate_black_list.sh index cf423f2edb..3220828c16 100644 --- a/analyses/copy_number_consensus_call/src/scripts/generate_black_list.sh +++ b/analyses/copy_number_consensus_call/src/scripts/generate_black_list.sh @@ -6,7 +6,7 @@ # There are two components to this file the "IGLL regions, centromeric and telomeric regions" and the "segmental duplication regions" # 1) The IGLL regions, centromeric and telomeric regions are generated from the practice described by Kai Wang at his PennCNV website http://penncnv.openbioinformatics.org/en/latest/misc/faq/ # 2) The segmental duplication are downloaded from UCSC genome browser. The segmental duplication with 95% identity was downloaded and merged. - The tracked used for this is here https://genome.ucsc.edu/cgi-bin/hgTrackUi?hgsid=783211655_qnHWS1w9VWkUebtWb7482jKHTMF8&c=chr1&g=genomicSuperDups +# The track used for this is here https://genome.ucsc.edu/cgi-bin/hgTrackUi?hgsid=783211655_qnHWS1w9VWkUebtWb7482jKHTMF8&c=chr1&g=genomicSuperDups # 3) In the end, everything was put together into one file, sorted and merged.