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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Overview of attention for article published in Nature, April 2010
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (97th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (63rd percentile)

Citations

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611 Dimensions

Readers on

mendeley
846 Mendeley
citeulike
21 CiteULike
connotea
5 Connotea
Title
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
Published in
Nature, April 2010
DOI 10.1038/nature08979
Pubmed ID
Abstract

Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed approximately 19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated approximately 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease-IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes-although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 846 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 23 3%
United States 20 2%
Germany 10 1%
Canada 6 <1%
Brazil 6 <1%
China 4 <1%
Australia 4 <1%
Spain 3 <1%
Netherlands 3 <1%
Other 25 3%
Unknown 742 88%

Demographic breakdown

Readers by professional status Count As %
Researcher 237 28%
Student > Ph. D. Student 199 24%
Professor > Associate Professor 78 9%
Professor 66 8%
Student > Master 58 7%
Other 166 20%
Unknown 42 5%
Readers by discipline Count As %
Agricultural and Biological Sciences 413 49%
Medicine and Dentistry 141 17%
Biochemistry, Genetics and Molecular Biology 103 12%
Computer Science 38 4%
Mathematics 17 2%
Other 77 9%
Unknown 57 7%

Attention Score in Context

This research output has an Altmetric Attention Score of 38. 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 05 June 2018.
All research outputs
#421,470
of 13,034,624 outputs
Outputs from Nature
#19,662
of 68,485 outputs
Outputs of similar age
#2,631
of 106,900 outputs
Outputs of similar age from Nature
#349
of 944 outputs
Altmetric has tracked 13,034,624 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 96th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 68,485 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 74.3. This one has gotten more attention than average, scoring higher than 71% 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 106,900 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 97% of its contemporaries.
We're also able to compare this research output to 944 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 63% of its contemporaries.