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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Absolute quantification reveals the stable transmission of a high copy number variant linked to autoinflammatory disease
|
|---|---|
| Published in |
BMC Genomics, April 2016
|
| DOI | 10.1186/s12864-016-2619-0 |
| Pubmed ID | |
| Authors |
M. Olsson, M. Kierczak, Å. Karlsson, J. Jabłońska, P. Leegwater, M. Koltookian, J. Abadie, C. Dufaure De Citres, A. Thomas, Å. Hedhammar, L. Tintle, K. Lindblad-Toh, J. R. S. Meadows |
| Abstract |
Dissecting the role copy number variants (CNVs) play in disease pathogenesis is directly reliant on accurate methods for quantification. The Shar-Pei dog breed is predisposed to a complex autoinflammatory disease with numerous clinical manifestations. One such sign, recurrent fever, was previously shown to be significantly associated with a novel, but unstable CNV (CNV_16.1). Droplet digital PCR (ddPCR) offers a new mechanism for CNV detection via absolute quantification with the promise of added precision and reliability. The aim of this study was to evaluate ddPCR in relation to quantitative PCR (qPCR) and to assess the suitability of the favoured method as a genetic test for Shar-Pei Autoinflammatory Disease (SPAID). One hundred and ninety-six individuals were assayed using both PCR methods at two CNV positions (CNV_14.3 and CNV_16.1). The digital method revealed a striking result. The CNVs did not follow a continuum of alleles as previously reported, rather the alleles were stable and pedigree analysis showed they adhered to Mendelian segregation. Subsequent analysis of ddPCR case/control data confirmed that both CNVs remained significantly associated with the subphenotype of fever, but also to the encompassing SPAID complex (p < 0.001). In addition, harbouring CNV_16.1 allele five (CNV_16.1|5) resulted in a four-fold increase in the odds for SPAID (p < 0.001). The inclusion of a genetic marker for CNV_16.1 in a genome-wide association test revealed that this variant explained 9.7 % of genetic variance and 25.8 % of the additive genetic heritability of this autoinflammatory disease. This data shows the utility of the ddPCR method to resolve cryptic copy number inheritance patterns and so open avenues of genetic testing. In its current form, the ddPCR test presented here could be used in canine breeding to reduce the number of homozygote CNV_16.1|5 individuals and thereby to reduce the prevalence of disease in this breed. |
X Demographics
The data shown below were collected from the profiles of 6 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Sweden | 1 | 17% |
| United Kingdom | 1 | 17% |
| Unknown | 4 | 67% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 4 | 67% |
| Science communicators (journalists, bloggers, editors) | 1 | 17% |
| Scientists | 1 | 17% |
Mendeley readers
The data shown below were compiled from readership statistics for 42 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Brazil | 1 | 2% |
| Unknown | 41 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 6 | 14% |
| Researcher | 5 | 12% |
| Student > Master | 4 | 10% |
| Student > Ph. D. Student | 4 | 10% |
| Professor | 2 | 5% |
| Other | 4 | 10% |
| Unknown | 17 | 40% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 11 | 26% |
| Veterinary Science and Veterinary Medicine | 6 | 14% |
| Biochemistry, Genetics and Molecular Biology | 3 | 7% |
| Medicine and Dentistry | 3 | 7% |
| Computer Science | 1 | 2% |
| Other | 1 | 2% |
| Unknown | 17 | 40% |
Attention Score in Context
This research output has an Altmetric Attention Score of 22. 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 May 2018.
All research outputs
#1,477,407
of 23,577,654 outputs
Outputs from BMC Genomics
#307
of 10,787 outputs
Outputs of similar age
#25,834
of 300,791 outputs
Outputs of similar age from BMC Genomics
#7
of 213 outputs
Altmetric has tracked 23,577,654 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 93rd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 10,787 research outputs from this source. They receive a mean Attention Score of 4.7. 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 300,791 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 91% of its contemporaries.
We're also able to compare this research output to 213 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.