The Human Gene Mutation Database (HGMD) and Its Exploitation in the Fields of Personalized Genomics and Molecular Evolution

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Quantitative missense variant effect prediction using large-scale mutagenesis data (2017, positive): “For example, the Human Gene Mutation Database (Stenson et al., 2012), Online Mendelian Inheritance of Man (Amberger et al., 2015), and ClinVar (Landrum et al., 2013) all categorize variants as clinically deleterious or benign.”
PredictSNP: Robust and Accurate Consensus Classifier for Prediction of Disease-Related Mutations (2014, methodology): “…SNPs&GO [19] dataset of 58,057 mutations compiled from SwissProt, the MutPred [10] dataset of 65,654 mutations compiled from SwissProt and HGMD [39] and the PON-P [28] training dataset of 39,670 mutations compiled from dbSNP, PhenCode [40], IDbases [41] and 16 individual locus-specific…”
The Ensembl Variant Effect Predictor (2016, methodology): “Additional human data include mutations from COSMIC [57] and the Human Gene Mutation Database [58] and structural variants and copy number variants from the Database of Genomic Variants archive [59].”
A systematic approach to assessing the clinical significance of genetic variants (2013, background): “ClinVar, HGMD (22) or locus-specific databases), as well as from the literature.”