Genome Medicine · 2022 · 50 citations · 33 references
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Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 30.5K citations · Full text
BEDTools: a flexible suite of utilities for comparing genomic features
Aaron R. Quinlan, Ira M. Hall · Bioinformatics · 2010 · 28.9K citations · Full text
Twelve years of SAMtools and BCFtools
Petr Danecek, James Bonfield, Jennifer Liddle et al. · GigaScience · 2021 · 14.3K citations · Full text
The Human Genome Browser at UCSC
W. James Kent, Charles W. Sugnet, Terrence S. Furey et al. · Genome Research · 2002 · 10.7K citations · Full text
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.1K citations · Full text
Phenotypic Variation, Protein-coding Genetic Variation, Genetics +5