You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output.
Click here to find out more.
X Demographics
Mendeley readers
Attention Score in Context
| Title |
Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study
|
|---|---|
| Published in |
BMC Medical Genomics, June 2014
|
| DOI | 10.1186/1471-2350-15-70 |
| Pubmed ID | |
| Authors |
Penny J Norsworthy, Jana Vandrovcova, Ellen RA Thomas, Archie Campbell, Shona M Kerr, Jennifer Biggs, Laurence Game, Anne K Soutar, Blair H Smith, Anna F Dominiczak, David J Porteous, Andrew D Morris, Generation Scotland, Timothy J Aitman |
| Abstract |
Familial hypercholesterolaemia (FH) is a common Mendelian condition which, untreated, results in premature coronary heart disease. An estimated 88% of FH cases are undiagnosed in the UK. We previously validated a method for FH mutation detection in a lipid clinic population using next generation sequencing (NGS), but this did not address the challenge of identifying index cases in primary care where most undiagnosed patients receive healthcare. Here, we evaluate the targeted use of NGS as a potential route to diagnosis of FH in a primary care population subset selected for hypercholesterolaemia. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Canada | 1 | 50% |
| United Kingdom | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 91 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Netherlands | 1 | 1% |
| Brazil | 1 | 1% |
| United Kingdom | 1 | 1% |
| New Zealand | 1 | 1% |
| Russia | 1 | 1% |
| Unknown | 86 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 22 | 24% |
| Student > Master | 15 | 16% |
| Student > Ph. D. Student | 11 | 12% |
| Professor | 5 | 5% |
| Student > Bachelor | 5 | 5% |
| Other | 17 | 19% |
| Unknown | 16 | 18% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 23 | 25% |
| Biochemistry, Genetics and Molecular Biology | 19 | 21% |
| Agricultural and Biological Sciences | 19 | 21% |
| Nursing and Health Professions | 1 | 1% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 1% |
| Other | 4 | 4% |
| Unknown | 24 | 26% |
Attention Score in Context
This research output has an Altmetric Attention Score of 5. 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 31 October 2017.
All research outputs
#6,753,656
of 25,371,288 outputs
Outputs from BMC Medical Genomics
#449
of 2,444 outputs
Outputs of similar age
#60,045
of 243,357 outputs
Outputs of similar age from BMC Medical Genomics
#5
of 36 outputs
Altmetric has tracked 25,371,288 research outputs across all sources so far. This one has received more attention than most of these and is in the 73rd percentile.
So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one has done well, scoring higher than 81% 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 243,357 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 74% of its contemporaries.
We're also able to compare this research output to 36 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 86% of its contemporaries.