Science Bulletin · 2024 · 19 citations · 18 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsPopulation GeneticsGenetic VariationPopulation GenomicsVariant AnalysisVariant CallingVariant DetectionVariant InterpretationGenetic Variant AnnotationGenetic Variant CallingGenetic Variant DetectionPopulation Reference DatabasesPopulation Reference Panels
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A global reference for human genetic variation
Richard Durbin, Peter Donnelly, Paul Flicek et al. · Nature · 2015 · 20K 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
An integrated map of genetic variation from 1,092 human genomes
A map of human genome variation from population-scale sequencing
A reference panel of 64,976 haplotypes for genotype imputation
Michael Boehnke · Nature Genetics · 2016 · 3.3K citations · Full text