Nature Genetics · 2022 · 48 citations · 43 references
Life SciencesGeneticsMolecular GeneticsDiabetologyHuman GeneticsMedical GeneticsDiabetes MellitusGenotype-phenotype Association AnalysisPolygenic TraitsRare Disease GenomicsRare Variant AnalysisRare Variant Association StudiesCommon Genetic VariantsDiabetes DiagnosisHemoglobin LevelsPolygenic Architecture Of Rare VariantsPolygenic Risk Score ConstructionPolygenic Risk ScoringPolygenic Risk StratificationPolygenic Score Modeling
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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