Laboratory-related outcomes from integrating an accessible delivery model for hereditary cancer risk assessment and genetic testing in populations with barriers to access

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

Pablo Cingolani, Adrian E. Platts, Le Lily Wang et al. · Fly · 2012 · 12.7K citations · Full text

Life Sciences, Bioinformatics, Genetics +17

CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing

Eric Talevich, A. Hunter Shain, Thomas Botton et al. · PLoS Computational Biology · 2016 · 2.3K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17