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X Demographics
Mendeley readers
Attention Score in Context
| Title |
UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families
|
|---|---|
| Published in |
Database: The Journal of Biological Databases & Curation, May 2013
|
| DOI | 10.1093/database/bat036 |
| Pubmed ID | |
| Authors |
Philippe Grandval, Aurélie J. Fabre, Pascaline Gaildrat, Stéphanie Baert-Desurmont, Marie-Pierre Buisine, Anthony Ferrari, Qing Wang, Christophe Béroud, Sylviane Olschwang |
| Abstract |
Lynch syndrome is an autosomal dominant disease caused by germ line heterozygous mutations mainly involving the MSH2, MLH1 and MSH6 genes that belong to the DNA MisMatch Repair (MMR) genes family. The French network counting the 16 licensed laboratories involved in Lynch syndrome genetic testing developed three locus-specific databases with the UMD software (www.umd.be/MLH1/, www.umd.be/MSH2/ and www.umd.be/MSH6/) that presently contain a total of 7047 sequence variations including 707 distinct variations of a priori unknown functional significance (VUS) that were identified through complete mutation screening or targeted predictive testing. Mutation carriers are at high risk for developing early-onset colorectal and endometrial adenocarcinomas. Consensus clinical guidelines have been proposed, allowing the efficient detection of curable lesions. The major challenge of genetic testing is to reliably classify the genomic variations in those patients who seek genetic counseling. Combining the interactive tools of the software, the relevant published data and mainly original information produced by the French MisMatch Repair network, the UMD-MLH1/MSH2/MSH6 databases provide interpretation data for the 707 VUS that were classified according to the IARC 5-Class system. These public databases are regularly updated to improve the classification of all registered VUS, exploring their role in cancer pre-disposition based on structural and functional approaches. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 41 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 2% |
| Unknown | 40 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 14 | 34% |
| Student > Ph. D. Student | 4 | 10% |
| Student > Master | 3 | 7% |
| Student > Doctoral Student | 2 | 5% |
| Professor | 2 | 5% |
| Other | 8 | 20% |
| Unknown | 8 | 20% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 12 | 29% |
| Medicine and Dentistry | 9 | 22% |
| Agricultural and Biological Sciences | 6 | 15% |
| Computer Science | 2 | 5% |
| Social Sciences | 2 | 5% |
| Other | 3 | 7% |
| Unknown | 7 | 17% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. 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 23 October 2013.
All research outputs
#19,945,185
of 25,374,917 outputs
Outputs from Database: The Journal of Biological Databases & Curation
#787
of 1,043 outputs
Outputs of similar age
#150,251
of 206,988 outputs
Outputs of similar age from Database: The Journal of Biological Databases & Curation
#16
of 18 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. This one is in the 18th percentile – i.e., 18% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,043 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.3. This one is in the 20th percentile – i.e., 20% of its peers scored the same or lower than it.
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 206,988 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 24th percentile – i.e., 24% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 18 others from the same source and published within six weeks on either side of this one. This one is in the 11th percentile – i.e., 11% of its contemporaries scored the same or lower than it.