Human Gene Mutation Database (HGMD®): 2003 update

By Peter D. Stenson, Edward V. Ball, Matthew E. Mort, A. Phillips, Jacqueline A. Shiel, Nick S. T. Thomas, S. Abeysinghe, M. Krawczak, David N. Cooper. 2003

1,857 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology

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Citations in the corpus

CADD: predicting the deleteriousness of variants throughout the human genome (2018, neutral): “Akeystrength of CADD is that the model is trained on a very large training set that does not suffer from ascertainment bias inherent to curated sets of pathogenic and benign variants such as ClinVar (7) or HGMD (58).”
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker (2008, background): “Information about genetic variation is available from general databases, such as dbSNP [Sherry et al., 2001], OMIM [Hamosh et al., 2005], HGMD [Stenson et al., 2003], and HGVbase [Fredman et al., 2004] or from locus-specific mutation databases (LSDBs) [Claustres et al., 2002].”
Mechanisms of Disease: genetic causes of familial hypercholesterolemia (2007, background): “LDLR mutation databases currently list more than 800 different mutations ( Figure 3C )”
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder (2017, positive): “…PhyloP and phastCons for placental mammals and 100 vertebrates 56 ), variant impact predictors (SIFT 57 , PolyPhen2 58 , Mutation Assessor 59 and CADD 60 ) and implication in human genetic disorders (Human Phenotype Ontology 61 , Human Gene Mutation Database 62 and Clinical Genomics Database 63 ).”
Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans (2009, methodology): “Here, we take advantage of recently available datasets of protein abundance (12–17) and genetic variation (18, 19) to assess the impact and natural variation of mammalian uORFs.”
Computational tools for prioritizing candidate genes: boosting disease gene discovery (2012, background): “Also, commercial systems, such as Ingenuity Pathway Analysis 51,52 , MetaCore from GeneGo 53,54 and the Human Gene Mutation Database 55,56 , contain manually curated disease–gene associations that might not be available through public databases.”
High-throughput discovery of novel developmental phenotypes (2016, positive): “We established orthology between genes in the mouse and human, and used the Human Genome Mutation Database (HGMD) to annotate human disease associations 31,32 .”
The Diploid Genome Sequence of an Individual Human (2007, methodology): “The sequencing, assembly, and cataloguing of the variant set and the corresponding haplotypes of the HuRef donor provided unprecedented opportunity to study gene-based variation using the vast body of scientific literature and extensively curated databases like OMIM [73] and Human Genetic Mutation D”