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