PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

Life Sciences, Bioinformatics, Biology +12

PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses

Shaun Purcell, Benjamin M. Neale, Katherine EO Todd-Brown et al. · The American Journal of Human Genetics · 2007 · 36.1K citations · Full text

Life Sciences, Bioinformatics, Genetics +13

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna, Matthew G. Hanna, Eric Banks et al. · Genome Research · 2010 · 30K citations · Full text

Life Sciences, Bioinformatics, Genetics +17

The variant call format and VCFtools

Petr Danecek, Adam Auton, Gonçalo R. Abecasis et al. · Bioinformatics · 2011 · 17.8K citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Statistical confidence for likelihood‐based paternity inference in natural populations

Tristan Marshall, Jon Slate, Loeske E. B. Kruuk et al. · Molecular Ecology · 1998 · 4.3K citations

Life Sciences, Biology, Genetics +10