The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
By Peter D. Stenson, Matthew E. Mort, Edward V. Ball, Molly Chapman, Katy Evans, L. Azevedo, Matthew Hayden, Sally Heywood, D. Millar, A. Phillips and 1 more. Human Genetics, 2020
670 citations recorded by the source corpus.
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.
Subfields: Cancer Research, Genetics
View Paper: https://www.semanticscholar.org/paper/96a132010592b39083540f79207ca2eec4b5dc9a
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Citations in the corpus
- The Nucleotide Transformer: Building and Evaluating Robust Foundation Models for Human Genomics (2024, methodology): “Following the Spliceator study, we only included sequences that were part of the balanced ’Gold Standard’ dataset (referred to as ’GS 1’ in the study).”