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

共 90 条

[1] Revisiting the morbid genome of Mendelian disorders [J].

Abouelhoda, Mohamed ;

Faquih, Tariq ;

El-Kalioby, Mohamed ;

Alkuraya, Fowzan S. .

GENOME BIOLOGY, 2016, 17

[2] A global reference for human genetic variation [J].

Altshuler, David M. ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Donnelly, Peter ;

Eichler, Evan E. ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Green, Eric D. ;

Hurles, Matthew E. ;

Knoppers, Bartha M. ;

Korbel, Jan O. ;

Lander, Eric S. ;

Lee, Charles ;

Lehrach, Hans ;

Mardis, Elaine R. ;

Marth, Gabor T. ;

McVean, Gil A. ;

Nickerson, Deborah A. ;

Wang, Jun ;

Wilson, Richard K. ;

Boerwinkle, Eric ;

Doddapaneni, Harsha ;

Han, Yi ;

Korchina, Viktoriya ;

Kovar, Christie ;

Lee, Sandra ;

Muzny, Donna ;

Reid, Jeffrey G. ;

Zhu, Yiming ;

Chang, Yuqi ;

Feng, Qiang ;

Fang, Xiaodong ;

Guo, Xiaosen ;

Jian, Min ;

Jiang, Hui ;

Jin, Xin ;

Lan, Tianming ;

Li, Guoqing ;

Li, Jingxiang ;

Li, Yingrui ;

Liu, Shengmao ;

Liu, Xiao ;

Lu, Yao ;

Ma, Xuedi ;

Tang, Meifang ;

Wang, Bo .

NATURE, 2015, 526 (7571) :68-+

[3] Improving the in silico assessment of pathogenicity for compensated variants [J].

Azevedo, Luisa ;

Mort, Matthew ;

Costa, Antonio C. ;

Silva, Raquel M. ;

Quelhas, Dulce ;

Amorim, Antonio ;

Cooper, David N. .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2017, 25 (01) :2-7

[4] Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response [J].

Azevedo, Luisa ;

Serrano, Catarina ;

Amorim, Antonio ;

Cooper, David N. .

HUMAN GENOMICS, 2015, 9

[5] Local DNA dynamics shape mutational patterns of mononucleotide repeats in human genomes [J].

Bacolla, Albino ;

Zhu, Xiao ;

Chen, Hanning ;

Howells, Katy ;

Cooper, David N. ;

Vasquez, Karen M. .

NUCLEIC ACIDS RESEARCH, 2015, 43 (10) :5065-5080

[6] Guanine Holes Are Prominent Targets for Mutation in Cancer and Inherited Disease [J].

Bacolla, Albino ;

Temiz, Nuri A. ;

Yi, Ming ;

Ivanic, Joseph ;

Cer, Regina Z. ;

Donohue, Duncan E. ;

Ball, Edward V. ;

Mudunuri, Uma S. ;

Wang, Guliang ;

Jain, Aklank ;

Volfovsky, Natalia ;

Luke, Brian T. ;

Stephens, Robert M. ;

Cooper, David N. ;

Collins, Jack R. ;

Vasquez, Karen M. .

PLOS GENETICS, 2013, 9 (09)

[7] Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing [J].

Bell, Callum J. ;

Dinwiddie, Darrell L. ;

Miller, Neil A. ;

Hateley, Shannon L. ;

Ganusova, Elena E. ;

Mudge, Joann ;

Langley, Ray J. ;

Zhang, Lu ;

Lee, Clarence C. ;

Schilkey, Faye D. ;

Sheth, Vrunda ;

Woodward, Jimmy E. ;

Peckham, Heather E. ;

Schroth, Gary P. ;

Kim, Ryan W. ;

Kingsmore, Stephen F. .

SCIENCE TRANSLATIONAL MEDICINE, 2011, 3 (65)

[8] Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing [J].

Calvo, Sarah E. ;

Compton, Alison G. ;

Hershman, Steven G. ;

Lim, Sze Chern ;

Lieber, Daniel S. ;

Tucker, Elena J. ;

Laskowski, Adrienne ;

Garone, Caterina ;

Liu, Shangtao ;

Jaffe, David B. ;

Christodoulou, John ;

Fletcher, Janice M. ;

Bruno, Damien L. ;

Goldblatt, Jack ;

DiMauro, Salvatore ;

Thorburn, David R. ;

Mootha, Vamsi K. .

SCIENCE TRANSLATIONAL MEDICINE, 2012, 4 (118)

[9] Identifying Mendelian disease genes with the Variant Effect Scoring Tool [J].

Carter, Hannah ;

Douville, Christopher ;

Stenson, Peter D. ;

Cooper, David N. ;

Karchin, Rachel .

BMC GENOMICS, 2013, 14

[10]

Choi YH, 2012, PLOS ONE, V7, DOI [10.1371/journal.pone.0039927, 10.1371/journal.pone.0046688]

← 1 2 3 4 5 6 7 8 9 →