The DOI matches its Crossref record; 31 of the 32 references it cites were found in a registry or an index.
The Human Gene Mutation Database: 2008 update
Open accessAbstract
The Human Gene Mutation Database (HGMD®) is a comprehensive core collection of germline mutations in nuclear genes that underlie or are associated with human inherited disease. Here, we summarize the history of the database and its current resources. By December 2008, the database contained over 85,000 different lesions detected in 3,253 different genes, with new entries currently accumulating at a rate exceeding 9,000 per annum. Although originally established for the scientific study of mutational mechanisms in human genes, HGMD has since acquired a much broader utility for researchers, physicians, clinicians and genetic counselors as well as for companies specializing in biopharmaceuticals, bioinformatics and personalized genomics. HGMD was first made publicly available in April 1996, and a collaboration was initiated in 2006 between HGMD and BIOBASE GmbH. This cooperative agreement covers the exclusive worldwide marketing of the most up-to-date (subscription) version of HGMD, HGMD Professional, to academic, clinical and commercial users.
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“Given that the Human Gene Mutation Database (HGMD) lists 102,433 disease mutations (27), a number that is steadily increasing, a fixed-content method appeared impractical.”
From Carrier testing for severe childhood recessive diseases by next-generation sequencing (2011) · cites this paper as [27]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Given that the Human Gene Mutation Database (HGMD) lists 102,433 disease mutations (27), a number that is steadily increasing, a fixed-content method appeared impractical.”
From Carrier testing for severe childhood recessive diseases by next-generation sequencing (2011) · cites this paper as [27]
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“Notably, substitutions, indels, splicing mutations, and gross deletions account for the vast majority (96%) of annotated mutations (27).”
From Carrier testing for severe childhood recessive diseases by next-generation sequencing (2011) · cites this paper as [27]
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“Indeed, 286 severe childhood autosomal recessive diseases encompassed 19,640 known disease mutations (8, 27, 28).”
From Carrier testing for severe childhood recessive diseases by next-generation sequencing (2011) · cites this paper as [27]
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“To be well suited for array-based screening, however, most carriers must be accounted for by a few mutations, and most disease mutations must be nucleotide substitutions (8, 27, 28).”
From Carrier testing for severe childhood recessive diseases by next-generation sequencing (2011) · cites this paper as [27]
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“MutDB112(http://mutdb.org/) contains a much larger number of rare coding variants that are either associated with disease or predicted to be damaging.”
From Rare and common variants: twenty arguments (2012) · cites this paper as [112]
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Metadata
- Authors
- Stenson, P. D., Mort, M., Ball, E. V., Howells, K., Phillips, A. D., Thomas, N. S., & Cooper, D. N.
- Affiliations
- Cardiff University (GB)
- Corresponding author
- Cooper, David N
- Venue
- Genome Medicine
- Published
- 2009-01-22
- Volume
- 1
- Issue
- 1
- Pages
- 13-13
- ISSN
- 1756-994X (ISSN-L)
- DOI
- 10.1186/gm13
- PMC
- PMC2651586
- OpenAlex
- W2158116492
- Cited by
- 873
- References
- 32
- Citations by year
- 2026: 6 · 2025: 8 · 2024: 26 · 2023: 33 · 2022: 18 · 2021: 32 · 2020: 28 · 2019: 35 · 2018: 41 · 2017: 47 · 2016: 73 · 2015: 73 · 2014: 71 · 2013: 102 · 2012: 101
- Type
- conference abstract
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Genome Medicine (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (acceptedVersion)
- DigitalGeorgetown (Georgetown University Library) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Keywords
- HGMD, germline mutations, genetic disorders, nuclear genes, mutation database, mutational mechanisms, genetic counseling, personalized genomics
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