Genetics in Medicine · 2020 · 30 citations · 22 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsPharmacogeneticsGermline Variant AnalysisMutation AnalysisVariant AnalysisVariant ClassificationVariant DetectionVariant InterpretationActionable Pharmacogenomic VariantsDisease-causing VariantsPathogenic Germline VariantsPathogenic Variant DetectionPathogenicity Assessment
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Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text
Analysis of protein-coding genetic variation in 60,706 humans
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ClinVar: public archive of relationships among sequence variation and human phenotype
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Sarah S. Kalia, Kathy Adelman, Sherri J. Bale et al. · Genetics in Medicine · 2016 · 1.7K citations · Full text