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DataDescription.md

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Versions

v1.2

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The phenotypic VNTRs had no overlap to pathogenic repeats. Therefore, we added the phenotypic VNTR's gene name to the pathogenic column of the catalog. This makes the v1.2 'patho' column more of a 'patho/pheno'

File Structure:

Column Definition
chr Chromosome of the region
start Start position of the region
end End position of the region
ovl_flag overlap categories of annotations inside the region
up_buff number of bases upstream of the first annotation's start that are non-TR sequence
dn_buff number of bases downstream of the last annotation's end that are non-TR sequence
hom_span number of bases of the region found to be homopolymer repeats
n_filtered number of annotations removed from the region
n_annos number of annotations remaining in the region
n_subregions number of subregions in the region
mu_purity average purity of annotations in region
pct_annotated percent of the region's range (minus buffer) annotated
interspersed name of interspersed repeat class found within region by RepeatMasker v4.1.4
patho/pheno name of gene affected by a pathogenic or phenotypic tandem repeat in region
codis name of CODIS site contained in region
gene_flag gene features intersecting region (Enseml v105)
biotype comma separated gene biotypes intersecting region (Enseml v105)
annos JSON of TRF annotations in the region (list of dicts with keys: motif, entropy, ovl_flag, etc)

Old Versions

v1.1

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  • Updated pathogenic repeats. 54 pathogenic regions are unchanged, 2 have been changed, and 6 added.
changed: (is_now -> was)
	NOTCH2NLA -> NOTCH2NLC
	NOTCH2NLC -> NOTCH2NL
added:
	EIF4A3, PRNP, TBX1, PRDM12, DMD, ZIC3
  • Renamed annotations' "motif" key back to "repeat" for truvari anno trf compatibility.
  • hom_span column normalized as hom_pct - percent of bases in the regions annotated as homopolymers

v1.0

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CHANGES:

  • Removed homopolymer annotations
  • Simplified overlapping annotations
  • Added new columns that describe properties of the region

File Structure:

Column Definition
chr Chromosome of the region
start Start position of the region
end End position of the region
ovl_flag overlap categories of annotations inside the region
up_buff number of bases upstream of the first annotation's start that are non-TR sequence
dn_buff number of bases downstream of the last annotation's end that are non-TR sequence
hom_span number of bases of the region found to be homopolymer repeats
n_filtered number of annotations removed from the region
n_annos number of annotations remaining in the region
n_subregions number of subregions in the region
mu_purity average purity of annotations in region
pct_annotated percent of the region's range (minus buffer) annotated
interspersed name of interspersed repeat class found within region by RepeatMasker v4.1.4
patho name of gene affected by a pathogenic tandem repeat in region
codis name of CODIS site contained in region
gene_flag gene features intersecting region (Enseml v105)
biotype comma separated gene biotypes intersecting region (Enseml v105)
annos JSON of TRF annotations in the region (list of dicts with keys: motif, entropy, ovl_flag, etc)

The annos JSON is simple key:values of:

  • chrom - chromosome
  • start - start position of the repeat
  • end - end position of the repeat
  • period - period size of the repeat
  • copies - number of copes of the repeat in the reference
  • score - alignment score
  • entropy - entropy measure based on percent composition
  • motif - motif sequence of the repeat
  • purity - Sequence similarity of motif*copies against annotation’s reference span

v0.3 - More Regions

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CHANGES:

  • Added new annotations sources from:
  • See slides for details
  • Same file structure as v0.2

v0.2 - Useable version

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Much simpler and much smaller data

CHANGES:

  • Using a pVCF created from 172 haplotype-resolved long-read assemblies, we removed any TR region which had no observed non-SNP variant. This removed 58% of the regions.
  • With fewer regions, we simplified the data's structure and now store everything in a single tab-delimited bed-like file with columns:

File Structure:

Columns:

  • chrom - chromosome of TR region
  • start - 0-based start position of TR region
  • end - 0-based end position of TR region
  • annos - Json containing a list of TRF annotated repeats with structure:
    • chrom - chromosome
    • start - start position of the repeat
    • end - end position of the repeat
    • period - period size of the repeat
    • copies - number of copes of the repeat in the reference
    • score - alignment score
    • entropy - entropy measure based on percent composition
    • repeat - motif of the repeat

Example:

chr11   11605859        11605958        [{"chrom": "chr11", "start": 11605912, "end": 11605927, "period": 2.0, "copies": 8.5, "score": 41, "entropy": 0.99, "repeat": "CA"}, {"chrom": "chr11", "start": 11605930, "end": 11605941, "period": 6.0, "copies": 2.0, "score": 36, "entropy": 1.92, "repeat": "AGCTTC"}]

Notes

The single file of regions paired with their annotations allows much easier parsing/usage. A custom parser can easily be built by splitting each line on tabs and using a json parser on the 4th column. A parser has already been built into truvari and can be used via:

from truvari.annotations.trf import iter_tr_regions
# generator for every region
adotto_all_regions = iter_tr_regions("adotto_TRannotations_v0.2.bed.gz")
# fetch regions in a region
adotto_fetch_regions = iter_tr_regions("adotto_TRannotations_v0.2.bed.gz", region=("chr17", 10350000, 10360000))

Additionally, the file can be queried with tabix

tabix adotto_TRannotations_v0.2.bed.gz chr11:11600000-11606000

v0.1 - Initial version

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Inside of data_list.txt is the relative paths to data generated by this step.

We bundle these files using tar such that they can be recovered in-place into a copy of the code for reanalysis and to keep things organized.

The tarball can be created with the command:

cat data_list.txt | tar czvf adotto_regions_data_<version>.tgz -T -

The tarball can be placed inside this directory and extracted in-place via:

tar xzvf adotto_regions_data_<version>.tgz

Note! the data_list.txt is put into .gitignore to help keep git status clean

CHANGES:

  • It exists

Notes:

List of files and their descriptions:

  • data/tr_regions.bed.gz - Final set of tandem-repeat regions for analysis
  • data/tr_annotated.bed.gz - TandemRepeatFinder annotations over the tandem-repeat regions
  • data/unannotated_regions.bed.gz - tr_regions.bed.gz which have no accompanying tr_annotated.bed.gz entries
  • data/merged.slop25.bed.gz - Merged calls from the sources with 25bp of slop added to each end
  • data/giab/giab_concat_input.bed.gz - Raw input provided by GIAB from ftp
  • data/giab/merged.bed.gz - GIAB regions merged
  • data/baylor/grch38.simpleRepeat.truvari.bed.gz - Raw input provided by baylor from UCSC Simple repeat annotations
  • data/baylor/merged.bed.gz - Baylor regions merged
  • data/pacbio/repeat_catalog.hg38.bed.gz - Raw input provided by pacbio from Illumina
  • data/pacbio/merged.bed.gz - Pacbio regions merged
  • data/ucsd1/ensembleTR_loci_list.bed.gz - Raw input provided by UCSD from ensemble
  • data/ucsd1/merged.bed.gz - UCSD1 regions merged
  • data/ucsd2/GIAB_adVNTR_short_VNTR_regions.bed.gz - Raw input provided by UCSD from ???
  • data/ucsd2/merged.bed.gz - UCSD2 regions merged