Communications Biology · 2022 · 47 citations · 110 references
110
The Sequence Alignment/Map format and SAMtools
Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 64.7K citations · Full text
Fast and accurate short read alignment with Burrows–Wheeler transform
Heng Li, Richard Durbin · Bioinformatics · 2009 · 60.7K citations · Full text
Second-generation PLINK: rising to the challenge of larger and richer datasets
Christopher Chang, Carson C. Chow, Laurent CAM Tellier et al. · GigaScience · 2015 · 13.1K citations · Full text
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.1K citations · Full text
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