The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

被引：991

作者：

Stenson, Peter D. ^{[1
]}

Mort, Matthew ^{[1
]}

Ball, Edward V. ^{[1
]}

Evans, Katy ^{[1
]}

Hayden, Matthew ^{[1
]}

Heywood, Sally ^{[1
]}

Hussain, Michelle ^{[1
]}

Phillips, Andrew D. ^{[1
]}

Cooper, David N. ^{[1
]}

机构：

[1] Cardiff Univ, Inst Med Genet, Sch Med, Heath Pk, Cardiff CF14 4XN, S Glam, Wales

来源：

HUMAN GENETICS | 2017年 / 136卷 / 06期

关键词：

INCIDENTAL FINDINGS; RECESSIVE DISORDERS; VARIANTS; GENOME; EXOME; DISEASE; NUCLEOTIDE; CONSEQUENCES; INDIVIDUALS; PREDICTION;

D O I：

10.1007/s00439-017-1779-6

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The Human Gene Mutation Database (HGMD(A (R))) constitutes a comprehensive collection of published germline mutations in nuclear genes that underlie, or are closely associated with human inherited disease. At the time of writing (March 2017), the database contained in excess of 203,000 different gene lesions identified in over 8000 genes manually curated from over 2600 journals. With new mutation entries currently accumulating at a rate exceeding 17,000 per annum, HGMD represents de facto the central unified gene/disease-oriented repository of heritable mutations causing human genetic disease used worldwide by researchers, clinicians, diagnostic laboratories and genetic counsellors, and is an essential tool for the annotation of next-generation sequencing data. The public version of HGMD (http://www.hgmd.org) is freely available to registered users from academic institutions and non-profit organisations whilst the subscription version (HGMD Professional) is available to academic, clinical and commercial users under license via QIAGEN Inc.

引用

页码：665 / 677

页数：13

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