Genome biology · 2025 · 13 citations · 74 references
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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
Fast gapped-read alignment with Bowtie 2
Ben Langmead, Steven L. Salzberg · Nature Methods · 2012 · 58.3K citations · Full text
Long-read Sequencing, Sequence Assembly, Natural Sciences +7
MEGA X: Molecular Evolutionary Genetics Analysis across Computing Platforms
Sudhir Kumar, Glen Stecher, Michael Li et al. · Molecular Biology and Evolution · 2018 · 37.2K citations · Full text
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 · 34.9K citations · Full text
Genome-wide Association Study, Whole-genome Association, Linkage Disequilibrium +12