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Mendeley readers
Attention Score in Context
| Title |
Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts
|
|---|---|
| Published in |
Frontiers in Genetics, April 2014
|
| DOI | 10.3389/fgene.2014.00105 |
| Pubmed ID | |
| Authors |
Patrick Sleiman, Jonathan Bradfield, Frank Mentch, Berta Almoguera, John Connolly, Hakon Hakonarson |
| Abstract |
Estimates from large scale genome sequencing studies indicate that each human carries up to 20 genetic variants that are predicted to results in loss of function (LOF) of protein-coding genes. While some are known disease-causing variants or common, tolerated, LOFs in non-essential genes, the majority remain of unknown consequence. We explore the possibility of using imputed GWAS data from large biorepositories such as the electronic medical record and genomics (eMERGE) consortium to determine the effects of rare LOFs. Here, we show that two hypocholesterolemia-associated LOF mutations in the PCSK9 gene can be accurately imputed into large-scale GWAS datasets which raises the possibility of assessing LOFs through genomics-linked medical records. |
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 % |
|---|---|---|
| Switzerland | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Practitioners (doctors, other healthcare professionals) | 1 | 50% |
| Members of the public | 1 | 50% |
Mendeley readers
The data shown below were compiled from readership statistics for 23 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Netherlands | 1 | 4% |
| Germany | 1 | 4% |
| Canada | 1 | 4% |
| Unknown | 20 | 87% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 5 | 22% |
| Student > Ph. D. Student | 5 | 22% |
| Student > Master | 2 | 9% |
| Other | 1 | 4% |
| Unspecified | 1 | 4% |
| Other | 2 | 9% |
| Unknown | 7 | 30% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 6 | 26% |
| Biochemistry, Genetics and Molecular Biology | 4 | 17% |
| Unspecified | 1 | 4% |
| Business, Management and Accounting | 1 | 4% |
| Computer Science | 1 | 4% |
| Other | 2 | 9% |
| Unknown | 8 | 35% |
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 09 May 2014.
All research outputs
#20,201,522
of 24,835,287 outputs
Outputs from Frontiers in Genetics
#7,799
of 13,369 outputs
Outputs of similar age
#170,958
of 233,014 outputs
Outputs of similar age from Frontiers in Genetics
#94
of 116 outputs
Altmetric has tracked 24,835,287 research outputs across all sources so far. This one is in the 10th percentile – i.e., 10% of other outputs scored the same or lower than it.
So far Altmetric has tracked 13,369 research outputs from this source. They receive a mean Attention Score of 3.8. This one is in the 29th percentile – i.e., 29% 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 233,014 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 13th percentile – i.e., 13% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 116 others from the same source and published within six weeks on either side of this one. This one is in the 13th percentile – i.e., 13% of its contemporaries scored the same or lower than it.