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The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.

Human genetics - 1 Oct 2020

Stenson Peter D, Mort Matthew, Ball Edward V, Chapman Molly, Evans Katy, Azevedo Luisa, Hayden Matthew, Heywood Sally, Millar David S, Phillips Andrew D, Cooper David N

Abstract excerpt

The Human Gene Mutation Database (HGMD®) constitutes a comprehensive collection of published germline mutations in nuclear genes that are thought to underlie, or are closely associated with human inherited disease. At the time of writing (June 2020), the database contains in excess of 289,000 different gene lesions identified in over 11,100 genes manually curated from 72,987 articles published in over 3100...

Topics

Bibliometrics
Biomedical Research
Databases, Genetic
Genetic Predisposition to Disease
Genome, Human
Germ-Line Mutation
Humans
Polymorphism, Genetic
Public-Private Sector Partnerships

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Identifiers

PMID: 32596782
DOI: 10.1007/s00439-020-02199-3
PMCID: PMC7497289

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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