scholarly journals The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

2013 ◽  
Vol 133 (1) ◽  
pp. 1-9 ◽  
Author(s):  
Peter D. Stenson ◽  
Matthew Mort ◽  
Edward V. Ball ◽  
Katy Shaw ◽  
Andrew D. Phillips ◽  
...  
Keyword(s):  
Molecular Genetics ◽  
Gene Mutation ◽  
Human Gene ◽  
Diagnostic Testing ◽  
Genomic Medicine ◽  
Human Gene Mutation Database ◽  
Mutation Database

scholarly journals Whole-exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data

2018 ◽  
Vol 6 (6) ◽  
pp. 1168-1180 ◽  
Author(s):  
D. Matthew Gianferante ◽  
Melissa Rotunno ◽  
Michael Dean ◽  
Weiyin Zhou ◽  
Belynda D. Hicks ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Exome Sequencing ◽  
Gene Mutation ◽  
Whole Exome Sequencing ◽  
Basal Cell ◽  
Human Gene ◽  
Human Gene Mutation Database ◽  
Whole Exome ◽  
Mutation Database

HGMD: The Human Gene Mutation Database

2006 ◽  
pp. 99-104 ◽  
Author(s):  
Michael Krawczak ◽  
Edward V. Ball ◽  
Peter Stenson ◽  
David N. Cooper
Keyword(s):  
Gene Mutation ◽  
Human Gene ◽  
Human Gene Mutation Database ◽  
Mutation Database

Application of ACMG criteria to classify variants in the human gene mutation database

2019 ◽  
Vol 64 (11) ◽  
pp. 1091-1095 ◽  
Author(s):  
Hui-Qi Qu ◽  
Xiang Wang ◽  
Lifeng Tian ◽  
Hakon Hakonarson
Keyword(s):  
Gene Mutation ◽  
Human Gene ◽  
Human Gene Mutation Database ◽  
Mutation Database

HGMD (Human Gene Mutation Database)

2004 ◽  
Author(s):  
Malachi Griffith ◽  
Obi L. Griffith
Keyword(s):  
Gene Mutation ◽  
Human Gene ◽  
Human Gene Mutation Database ◽  
Mutation Database

scholarly journals The Human Gene Mutation Database: 2008 update

10.1186/gm13 ◽  
2009 ◽  
Vol 1 (1) ◽  
pp. 13 ◽  
Author(s):  
Peter D Stenson ◽  
Matthew Mort ◽  
Edward V Ball ◽  
Katy Howells ◽  
Andrew D Phillips ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Human Gene ◽  
Human Gene Mutation Database ◽  
Mutation Database

The Frequency of Discordant Variant Classification in the Human Gene Mutation Database: A Comparison of the American College of Medical Genetics and Genomics Guidelines and ClinVar

2020 ◽  
Author(s):  
Kyoung-Jin Park ◽  
Woochang Lee ◽  
Sail Chun ◽  
Won-Ki Min
Keyword(s):  
Gene Mutation ◽  
Human Gene ◽  
Medical Genetics ◽  
Human Gene Mutation Database ◽  
Variant Classification ◽  
Germline Variant ◽  
Mutation Database ◽  
Genetics And Genomics

Abstract Objective Discordant variant classifications among public databases is one of the well-documented limitations when interpreting the pathogenicity of variants. The aim of this study is to investigate the level of germline variant misannotation from the Human Gene Mutation Database (HGMD) and the annotation concordance between databases. Methods We used a total of 188,106 classified variants (disease-causing mutations [n = 179,454] and polymorphisms [n = 8652]) in 6466 genes from the HGMD. All variants were reanalyzed based on the American College of Medical Genetics and Genomics (ACMG) guidelines and compared to ClinVar database variants. Results When variants were classified based on the ACMG guidelines, misclassification was observed in 3.47% (2289/65,896) of variants. The overall concordance between HGMD and ClinVar was 97.62% (52,499/53,780) of variants studied. Conclusion Variants in databases must be used with caution when variant pathogenicity is interpreted. This study reveals the frequency of misannotation of the HGMD variants and annotation concordance between databases in depth.

scholarly journals Human Gene Mutation Database (HGMD®): 2003 update

2003 ◽  
Vol 21 (6) ◽  
pp. 577-581 ◽  
Author(s):  
Peter D. Stenson ◽  
Edward V. Ball ◽  
Matthew Mort ◽  
Andrew D. Phillips ◽  
Jacqueline A. Shiel ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Human Gene ◽  
Human Gene Mutation Database ◽  
Mutation Database

Human Gene Mutation Database

1996 ◽  
Vol 98 (5) ◽  
pp. 629-629 ◽  
Author(s):  
D. N. Cooper ◽  
Michael Krawczak
Keyword(s):  
Gene Mutation ◽  
Human Gene ◽  
Human Gene Mutation Database ◽  
Mutation Database

The Human Gene Mutation Database (HGMD) and Its Exploitation in the Study of Mutational Mechanisms

2005 ◽  
Vol 12 (1) ◽  
pp. 1.13.1-1.13.20 ◽  
Author(s):  
David N. Cooper ◽  
Peter D. Stenson ◽  
Nadia A. Chuzhanova
Keyword(s):  
Gene Mutation ◽  
Human Gene ◽  
Human Gene Mutation Database ◽  
Mutation Database
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