Search for potential pathological mutations in your human mtDNA sequence
Author: Edvard Ehler, PhD (edvard.ehler@img.cas.cz)
Year: 2020
This tool will search for the (potential) pathological mutations in you mtDNA samples. To get the right input format, please, use the Haplogrep 2 (https://haplogrep.i-med.ac.at/app/index.html) tool to turn your sequences (fastas) into HSD format file. Haplogrep can be also downloaded and run localy (https://github.com/seppinho/haplogrep-cmd). Pathological mtDNA mutations are taken from data published at https://www.mitomap.org/MITOMAP.
HSD format is a simple, tab delimited text file with 4 or more columns. Here are the examples taken from Haplogrep GitHub and their online test data:
ID Range Haplogroup Polymorphisms
Sample1 1-16569 ? 263G 315.1C 750G 1041G 1438G 4769G 8860G 9410G 12358G 13656C 15326G 16189C 16192T 16519C
Sample2 1-16569 H100 263G 315.1C 750G 1041G 1438G 4769G 8860G 9410G 12358G 13656C 15326G 16189C 16192T 16519C
Sample3 1-16569 ? 73G 263G 315.1C 750G 1438G 3010A 3107C 4769G 5111T 8860G 10257T 12358G 15326G 16145A 16222T 16519C
Sample4 16024-16569;1-576;2092;3552;4071;4491;4833;4883;8414;8473;9090;9824;10397;10400;11959;11969;12372;12771;13563;14502;14569;15487; G2a1d 73G 260A 263G 309.1C 315.1C 489C 4833G 10400T 13563G 14569A 16183C 16189C 16193.1C 16223T 16278T 16362C
Sample5 16024-16569;1-576;1119;1719;1736;3547;3970;4820;5417;8277;8281-8289;8392;9123;10310;10398;11914;12007;12338;12358;12705;12714;14502;15535; B4h 73G 263G 309.1CC 315.1C 523d 524d 8281d 8282d 8283d 8284d 8285d 8286d 8287d 8288d 8289d 16129A 16182C 16183C 16189C 16217C 16261T 16319A 16497G
-
Prepare your samples into HSD format.
-
With
mitopatho.py
andmitopatho_db_v1.pickle
in you directory run:
mitopatho.py -i your_input.hsd -o output.txt
or potentialypython mitopatho.py -i your_input.hsd -o output.txt
You will need just Python 3.6 (and up) with installed Pandas (v. 1.0.3 and up should work). -
The output file is tab separated file, one line per sample, following format:
sample_name allele1,disease1,status1;allele2,disease2,status2;allele3,disease3,status3;...
We also invite you to check our Ancient mtDNA Database where you will find sequencies, metadata and also the pathologies of ancient human mtDNA samples at: https://amtdb.org/.
If you use this tool in you research, please, consider citing our article:
Ehler E, Novotný J, Juras A, Chyleński M, Moravčík O, Pačes J. AmtDB: a database of ancient human mitochondrial genomes. Nucleic acids research. 2019 Jan 8;47(D1):D29-32. https://academic.oup.com/nar/article-abstract/47/D1/D29/5106144