The American Journal of Human Genetics · 2019 · 100 citations · 54 references
InfertilityAndrologyDevelopmental BiologyBi-allelic MutationsGenetic DisorderGeneticsReproductive HealthGameteMolecular GeneticsMale InfertilityReproductive BiologyPublic HealthMedicineFertilisationHuman Reproduction
54
Fast and accurate short read alignment with Burrows–Wheeler transform
Heng Li, Richard Durbin · Bioinformatics · 2009 · 60.7K citations · Full text
Gene Ontology: tool for the unification of biology
Michael Ashburner, Catherine A. Ball, Judith A. Blake et al. · Nature Genetics · 2000 · 43.3K citations · Full text
Functional Genomics, Engineering, Bioinformatics Database +11
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 · 28.9K citations · Full text
Multiplex Genome Engineering Using CRISPR/Cas Systems
Le Cong, F. Ann Ran, David Cox et al. · Science · 2013 · 15.4K citations