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

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 diff...

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Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7497289/
https://www.ncbi.nlm.nih.gov/pubmed/32596782
http://dx.doi.org/10.1007/s00439-020-02199-3
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author 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.
author_facet 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.
author_sort Stenson, Peter D.
collection PubMed
description 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 peer-reviewed journals. There are primarily two main groups of users who utilise HGMD on a regular basis; research scientists and clinical diagnosticians. This review aims to highlight how to make the most out of HGMD data in each setting.
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spelling pubmed-74972892020-09-29 The Human Gene Mutation Database (HGMD(®)): optimizing its use in a clinical diagnostic or research setting 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. Hum Genet Review 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 peer-reviewed journals. There are primarily two main groups of users who utilise HGMD on a regular basis; research scientists and clinical diagnosticians. This review aims to highlight how to make the most out of HGMD data in each setting. Springer Berlin Heidelberg 2020-06-28 2020 /pmc/articles/PMC7497289/ /pubmed/32596782 http://dx.doi.org/10.1007/s00439-020-02199-3 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Review
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.
The Human Gene Mutation Database (HGMD(®)): optimizing its use in a clinical diagnostic or research setting
title The Human Gene Mutation Database (HGMD(®)): optimizing its use in a clinical diagnostic or research setting
title_full The Human Gene Mutation Database (HGMD(®)): optimizing its use in a clinical diagnostic or research setting
title_fullStr The Human Gene Mutation Database (HGMD(®)): optimizing its use in a clinical diagnostic or research setting
title_full_unstemmed The Human Gene Mutation Database (HGMD(®)): optimizing its use in a clinical diagnostic or research setting
title_short The Human Gene Mutation Database (HGMD(®)): optimizing its use in a clinical diagnostic or research setting
title_sort human gene mutation database (hgmd(®)): optimizing its use in a clinical diagnostic or research setting
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7497289/
https://www.ncbi.nlm.nih.gov/pubmed/32596782
http://dx.doi.org/10.1007/s00439-020-02199-3
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