Genome biology · 2021 · 77 citations · 64 references
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Fast and accurate short read alignment with Burrows–Wheeler transform
Heng Li, Richard Durbin · Bioinformatics · 2009 · 60.7K citations · Full text
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
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BLAST+: architecture and applications
Christiam Camacho, George Coulouris, Vahram Avagyan et al. · BMC Bioinformatics · 2009 · 21.8K citations · Full text
The Ensembl Variant Effect Predictor
William McLaren, Laurent Gil, Sarah Hunt et al. · Genome biology · 2016 · 8.3K citations · Full text