The American Journal of Human Genetics · 2016 · 94 citations · 43 references
Life SciencesGeneticsMolecular GeneticsGene ExpressionHuman GeneticsMedical GeneticsGenetic VariationGenomic VariationRare Variant AnalysisRare Variant Association StudiesVariant AnalysisVariant DetectionCommon Genetic VariantsRare Genetic VariantsRare Variant Association AnalysisRare Variant Burden AnalysisRare Variant ContributionRare Variant DiscoveryWhole-genome Rare Variant Analysis
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The variant call format and VCFtools
Petr Danecek, Adam Auton, Gonçalo R. Abecasis et al. · Bioinformatics · 2011 · 17.8K citations · Full text
An integrated map of genetic variation from 1,092 human genomes