Nature · 2023 · 1.3K citations · 76 references
Life SciencesGeneticsMolecular GeneticsGenomic Data AnalysisGenomicsHuman GeneticsGenetic MappingGenetic VariationGenomic VariationMutation AnalysisVariant AnalysisVariant DetectionEvolutionary Constraint AnalysisMutational ConstraintMutational LandscapesMutational MappingVariant-to-gene Mapping
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BEDTools: a flexible suite of utilities for comparing genomic features
Aaron R. Quinlan, Ira M. Hall · Bioinformatics · 2010 · 30.4K citations · Full text
A global reference for human genetic variation
Richard Durbin, Peter Donnelly, Paul Flicek et al. · Nature · 2015 · 20K citations · Full text
pROC: an open-source package for R and S+ to analyze and compare ROC curves
Xavier Robin, Natacha Turck, Alexandre Hainard et al. · BMC Bioinformatics · 2011 · 14K 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 · 10.3K citations · Full text
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text