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Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion

Overview of attention for article published in Nature Genetics, December 2012
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (94th percentile)
  • Good Attention Score compared to outputs of the same age and source (70th percentile)

Mentioned by

blogs
2 blogs
twitter
2 X users
facebook
1 Facebook page
wikipedia
1 Wikipedia page

Citations

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238 Dimensions

Readers on

mendeley
258 Mendeley
citeulike
6 CiteULike
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Title
Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion
Published in
Nature Genetics, December 2012
DOI 10.1038/ng.2507
Pubmed ID
Authors

Jeroen R Huyghe, Anne U Jackson, Marie P Fogarty, Martin L Buchkovich, Alena Stančáková, Heather M Stringham, Xueling Sim, Lingyao Yang, Christian Fuchsberger, Henna Cederberg, Peter S Chines, Tanya M Teslovich, Jane M Romm, Hua Ling, Ivy McMullen, Roxann Ingersoll, Elizabeth W Pugh, Kimberly F Doheny, Benjamin M Neale, Mark J Daly, Johanna Kuusisto, Laura J Scott, Hyun Min Kang, Francis S Collins, Gonçalo R Abecasis, Richard M Watanabe, Michael Boehnke, Markku Laakso, Karen L Mohlke

Abstract

Insulin secretion has a crucial role in glucose homeostasis, and failure to secrete sufficient insulin is a hallmark of type 2 diabetes. Genome-wide association studies (GWAS) have identified loci contributing to insulin processing and secretion; however, a substantial fraction of the genetic contribution remains undefined. To examine low-frequency (minor allele frequency (MAF) 0.5-5%) and rare (MAF < 0.5%) nonsynonymous variants, we analyzed exome array data in 8,229 nondiabetic Finnish males using the Illumina HumanExome Beadchip. We identified low-frequency coding variants associated with fasting proinsulin concentrations at the SGSM2 and MADD GWAS loci and three new genes with low-frequency variants associated with fasting proinsulin or insulinogenic index: TBC1D30, KANK1 and PAM. We also show that the interpretation of single-variant and gene-based tests needs to consider the effects of noncoding SNPs both nearby and megabases away. This study demonstrates that exome array genotyping is a valuable approach to identify low-frequency variants that contribute to complex traits.

X Demographics

X Demographics

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 258 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 10 4%
United Kingdom 3 1%
France 2 <1%
Norway 2 <1%
Canada 2 <1%
Mexico 2 <1%
Sweden 1 <1%
Brazil 1 <1%
Netherlands 1 <1%
Other 4 2%
Unknown 230 89%

Demographic breakdown

Readers by professional status Count As %
Researcher 75 29%
Student > Ph. D. Student 61 24%
Student > Master 19 7%
Other 18 7%
Professor > Associate Professor 16 6%
Other 47 18%
Unknown 22 9%
Readers by discipline Count As %
Agricultural and Biological Sciences 98 38%
Biochemistry, Genetics and Molecular Biology 55 21%
Medicine and Dentistry 48 19%
Computer Science 6 2%
Mathematics 3 1%
Other 14 5%
Unknown 34 13%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 24. 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 12 July 2019.
All research outputs
#1,619,898
of 26,017,215 outputs
Outputs from Nature Genetics
#2,316
of 7,639 outputs
Outputs of similar age
#14,083
of 295,424 outputs
Outputs of similar age from Nature Genetics
#25
of 84 outputs
Altmetric has tracked 26,017,215 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 7,639 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 43.7. This one has gotten more attention than average, scoring higher than 69% 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 295,424 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 94% of its contemporaries.
We're also able to compare this research output to 84 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 70% of its contemporaries.