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Measuring shared variants in cohorts of discordant siblings with applications to autism

Overview of attention for article published in Proceedings of the National Academy of Sciences of the United States of America, June 2017
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  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (93rd percentile)
  • Above-average Attention Score compared to outputs of the same age and source (64th percentile)

Mentioned by

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3 news outlets
blogs
1 blog
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11 X users
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1 Facebook page

Citations

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7 Dimensions

Readers on

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43 Mendeley
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Title
Measuring shared variants in cohorts of discordant siblings with applications to autism
Published in
Proceedings of the National Academy of Sciences of the United States of America, June 2017
DOI 10.1073/pnas.1700439114
Pubmed ID
Authors

Kenny Ye, Ivan Iossifov, Dan Levy, Boris Yamrom, Andreas Buja, Abba M. Krieger, Michael Wigler

Abstract

We develop a method of analysis [affected to discordant sibling pairs (A2DS)] that tests if shared variants contribute to a disorder. Using a standard measure of genetic relation, test individuals are compared with a cohort of discordant sibling pairs (CDS) to derive a comparative similarity score. We ask if a test individual is more similar to an unrelated affected than to the unrelated unaffected sibling from the CDS and then, sum over such individuals and pairs. Statistical significance is judged by randomly permuting the affected status in the CDS. In the analysis of published genotype data from the Simons Simplex Collection (SSC) and the Autism Genetic Resource Exchange (AGRE) cohorts of children with autism spectrum disorder (ASD), we find strong statistical significance that the affected are more similar to the affected than to the unaffected of the CDS (P value ∼ 0.00001). Fathers in multiplex families have marginally greater similarity (P value = 0.02) to unrelated affected individuals. These results do not depend on ethnic matching or gender.

X Demographics

X Demographics

The data shown below were collected from the profiles of 11 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 43 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 43 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 8 19%
Researcher 6 14%
Student > Master 5 12%
Student > Bachelor 4 9%
Student > Doctoral Student 4 9%
Other 4 9%
Unknown 12 28%
Readers by discipline Count As %
Psychology 8 19%
Biochemistry, Genetics and Molecular Biology 5 12%
Agricultural and Biological Sciences 5 12%
Computer Science 2 5%
Medicine and Dentistry 2 5%
Other 5 12%
Unknown 16 37%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 39. 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 10 August 2017.
All research outputs
#991,949
of 24,625,114 outputs
Outputs from Proceedings of the National Academy of Sciences of the United States of America
#15,385
of 101,438 outputs
Outputs of similar age
#20,705
of 321,292 outputs
Outputs of similar age from Proceedings of the National Academy of Sciences of the United States of America
#340
of 948 outputs
Altmetric has tracked 24,625,114 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 95th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 101,438 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 38.8. This one has done well, scoring higher than 84% 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 321,292 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 93% of its contemporaries.
We're also able to compare this research output to 948 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 64% of its contemporaries.