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

By Peter D. Stenson, Matthew E. Mort, Edward V. Ball, Katy Evans, Matthew Hayden, Sally Heywood, M. Hussain, A. Phillips, David N. Cooper. Human Genetics, 2017

1,216 citations recorded by the source corpus.

The Human Gene Mutation Database (HGMD®) 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.

Subfields: Cancer Research, Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/13ca8b941c78e1a3c94efc4605133d0a17b3ac4d

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cancer Research

1. Matthew Meyerson
2. Oliver Stegle
3. Chad Creighton
4. Jakob Skou Pedersen

In Genetics

1. Evangelos Evangelou
2. Hua Tang
3. P. Park
4. Michael Inouye
5. Paul Elliott
6. Oliver Stegle
7. Alvis Brazma
8. Roland F. Schwarz

In Molecular Biology

1. Paul L. Auer
2. Siliang Li
3. Evangelos Evangelou
4. Jan O. Korbel
5. P. Park
6. Michael Inouye
7. Matthew Meyerson
8. Nuno A. Fonseca

Citations in the corpus

• The Polygenic and Monogenic Basis of Blood Traits and Diseases (2020, background): “, 2014), (2) Human Gene Mutation Database (HGMD) (Stenson et al., 2017), and (3) a recently curated list of variants for rare blood disorders from the Rare Disease Pilot for the 100,000 Genomes Project (NIHR-RD)”
• Genomic basis for RNA alterations in cancer (2020, methodology): “In addition to the z -score-filtering mentioned above, we further filtered non-synonymous SNVs, RNA-editing events and splicing events such that they either induce a frameshift or the alternative region contains an HGMD variant 112 of the category ‘damaging’.”