awesome-genetics
A curated list of awesome bioinformatics software and libraries
Essentials
Knowledge
- SNPedia — A wiki investigating human genetics.
- Bioinformatics for Beginners — Coursera's introductory course to the field of bioinformatics
- The National Center for Biotechnology Information — advances science and health by providing access to biomedical and genomic information
Offline Tools
- chrchang/plink-ng — PLINK association analysis toolset home page
- vcftools/vcftools — A set of tools written in Perl and C++ for working with VCF files
- samtools/bcftools — Utilities for variant calling and manipulating VCFs and BCFs by HTSlib
- samtools/samtools — Utilities for the Sequence Alignment/Map (SAM) format by HTSlib
- arrogantrobot/23andme2vcf — Convert a 23andme raw file to VCF (Perl)
- 23andMe/seqseek — Easy access to human reference genome sequences (Python)
Online tools
- varsome.com — The Human Genomic Variant Search Engine
Health and traits
Knowledge
- Genetics Home Reference — consumer-friendly information about the effects of genetic variation on human health
Online tools
- Codegen — A free comprehensive health report using consumer DNA test raw data
- Promethease — Generates health and trait reports based on SNPedia (paid)
Genetic genealogy
Knowledge
- ISOGG Wiki — International Society of Genetic Genealogy Wiki
- Beginners guide to genetic genealogy
Offline tools
- apriha/lineage — Tools for genetic genealogy and the analysis of consumer DNA test results (Python)
- 23andMe/yhaplo — Identifying Y-chromosome haplogroups in arbitrarily large samples of sequenced or genotyped men (Python)
Online tools
- GEDmatch — GEDmatch is a free online toolset to compare autosomal DNA data files
- DNA.Land — The site offers a biogeographical analysis, imputation and a relative-matching feature
- David Pike's Tools — Utilities for analysing raw DNA data (JS)
- Shared cM Project — Visualize relationship probabilities based on centimorgans