| Title |
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
|
|---|---|
| Published in |
Human Genetics, September 2013
|
| DOI | 10.1007/s00439-013-1358-4 |
| Pubmed ID | |
| Authors |
Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Shaw, Andrew D. Phillips, David N. Cooper |
| Abstract |
The Human Gene Mutation Database (HGMD®) is a comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease. By June 2013, the database contained over 141,000 different lesions detected in over 5,700 different genes, with new mutation entries currently accumulating at a rate exceeding 10,000 per annum. HGMD was originally established in 1996 for the scientific study of mutational mechanisms in human genes. However, it has since acquired a much broader utility as a central unified disease-oriented mutation repository utilized by human molecular geneticists, genome scientists, molecular biologists, clinicians and genetic counsellors as well as by those specializing in biopharmaceuticals, bioinformatics and personalized genomics. The public version of HGMD (http://www.hgmd.org) is freely available to registered users from academic institutions/non-profit organizations whilst the subscription version (HGMD Professional) is available to academic, clinical and commercial users under license via BIOBASE GmbH. |
X Demographics
The data shown below were collected from the profiles of 9 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 3 | 33% |
| Finland | 1 | 11% |
| Guinea | 1 | 11% |
| Germany | 1 | 11% |
| Unknown | 3 | 33% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 5 | 56% |
| Scientists | 3 | 33% |
| Science communicators (journalists, bloggers, editors) | 1 | 11% |
Mendeley readers
The data shown below were compiled from readership statistics for 866 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 8 | <1% |
| United Kingdom | 8 | <1% |
| Sweden | 3 | <1% |
| Spain | 3 | <1% |
| Korea, Republic of | 2 | <1% |
| Netherlands | 2 | <1% |
| Germany | 2 | <1% |
| Canada | 2 | <1% |
| Brazil | 2 | <1% |
| Other | 5 | <1% |
| Unknown | 829 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 188 | 22% |
| Researcher | 165 | 19% |
| Student > Master | 118 | 14% |
| Student > Bachelor | 86 | 10% |
| Other | 47 | 5% |
| Other | 133 | 15% |
| Unknown | 129 | 15% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 250 | 29% |
| Agricultural and Biological Sciences | 214 | 25% |
| Medicine and Dentistry | 105 | 12% |
| Computer Science | 56 | 6% |
| Neuroscience | 20 | 2% |
| Other | 68 | 8% |
| Unknown | 153 | 18% |
Attention Score in Context
This research output has an Altmetric Attention Score of 41. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 16 April 2024.
All research outputs
#1,031,070
of 25,837,817 outputs
Outputs from Human Genetics
#76
of 3,002 outputs
Outputs of similar age
#8,985
of 220,432 outputs
Outputs of similar age from Human Genetics
#1
of 26 outputs
Altmetric has tracked 25,837,817 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 95th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,002 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.1. This one has done particularly well, scoring higher than 97% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 220,432 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 95% of its contemporaries.
We're also able to compare this research output to 26 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 96% of its contemporaries.