Human Gene Mutation Database—A biomedical information and research resource

By M. Krawczak, Edward V. Ball, I. Fenton, Peter D. Stenson, S. Abeysinghe, Nick S. T. Thomas, David N. Cooper. Human Mutation, 2000

295 citations recorded by the source corpus.

Although 20 years have elapsed since the first single basepair substitution underlying an inherited disease in humans was characterised at the DNA level, the initiative has only recently been taken to establish central database resources for pathological genetic variants. Disease‐associated gene lesions are currently collected and publicised by the Human Gene Mutation Database (HGMD) in Cardiff, locus‐specific mutation databases, and to some extent also by the Genome Database (GDB) and Online Mendelian Inheritance in Man (OMIM). To date, HGMD represents the only comprehensive and publicly available database of gene lesions underlying human inherited disease. By July 1999, HGMD contained over 18,000 different mutations from some 900 human genes, the majority being single basepair substitutions. In addition to its potential as an information resource for clinicians and genetic counsellors, HGMD has allowed molecular geneticists to address a variety of biological questions through meta‐analysis of the collated data. HGMD also promises to assist research workers in optimising mutation search strategies for a given gene. A questionnaire sent out to, and answered by, the editors of 20 key journals revealed that human genetics journals are increasingly reluctant to publish mutation reports. Electronic data submission and publication facilities are therefore urgently required. The World Wide Web (WWW) provides an excellent medium within which to combine the centralised management of basic mutation data, including rigorous quality control, with the possibility of publishing additional mutation‐related information. In response to these needs, HGMD has both instituted a collaboration with Springer‐Verlag GmbH, Heidelberg, to potentiate free online submission and electronic publication of human gene mutation data and developed links with the curators of locus‐specific mutation databases. Hum Mutat 15:45–51, 2000. © 2000 Wiley‐Liss, Inc.

Subfields: Cancer Research, Genetics

View Paper: https://www.semanticscholar.org/paper/27e6440cf614ad4c38b773b062ceab840ffe6250

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cancer Research

In Genetics

Citations in the corpus

Settling the score: variant prioritization and Mendelian disease (2017, background): “ClinVar 17 and the Human Gene Mutation Database (HGMD) 109,110 catalogue ever-increasing connections between variants and disease.”
SIFT: predicting amino acid changes that affect protein function (2003, background): “Non-synonymous SNPs that lead to an amino acid change in the protein product are of major interest, because amino acid substitutions currently account for approximately half of the known gene lesions responsible for human inherited disease (1).”
SNPs, protein structure, and disease (2001, background): “According to the Human Gene Mutation Database [Krawczak et al., 2000], missense mutations account for almost half of all DNA mutations that are known to cause genetic disease.”
Human Gene Mutation Database (HGMD®): 2003 update (2003, background): “org) represents the only comprehensive collation of germline mutations underlying human inherited disease [Krawczak and Cooper, 1997; Cooper et al., 1998; Krawczak et al., 2000].”
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm (2009, methodology): “(1) NCBI protein identifiers: There are two types of protein identifiers supported by SIFT: NCBI Reference protein sequence (RefSeq) identifiers and NCBI GI numbers.”