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The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes

Overview of attention for article published in Genome Biology (Online Edition), January 2016
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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 (87th percentile)

Mentioned by

twitter
21 tweeters
f1000
1 research highlight platform

Citations

dimensions_citation
72 Dimensions

Readers on

mendeley
117 Mendeley
citeulike
4 CiteULike
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Title
The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes
Published in
Genome Biology (Online Edition), January 2016
DOI 10.1186/s13059-016-0869-4
Pubmed ID
Authors

Ayal B. Gussow, Slavé Petrovski, Quanli Wang, Andrew S. Allen, David B. Goldstein

Abstract

Ranking human genes based on their tolerance to functional genetic variation can greatly facilitate patient genome interpretation. It is well established, however, that different parts of proteins can have different functions, suggesting that it will ultimately be more informative to focus attention on functionally distinct portions of genes. Here we evaluate the intolerance of genic sub-regions using two biological sub-region classifications. We show that the intolerance scores of these sub-regions significantly correlate with reported pathogenic mutations. This observation extends the utility of intolerance scores to indicating where pathogenic mutations are mostly likely to fall within genes.

Twitter Demographics

The data shown below were collected from the profiles of 21 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 117 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 5 4%
United Kingdom 2 2%
Japan 1 <1%
Sweden 1 <1%
Luxembourg 1 <1%
Unknown 107 91%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 29 25%
Researcher 28 24%
Student > Master 13 11%
Student > Bachelor 10 9%
Other 9 8%
Other 15 13%
Unknown 13 11%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 35 30%
Agricultural and Biological Sciences 33 28%
Medicine and Dentistry 14 12%
Computer Science 8 7%
Neuroscience 6 5%
Other 6 5%
Unknown 15 13%

Attention Score in Context

This research output has an Altmetric Attention Score of 12. 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 07 February 2019.
All research outputs
#1,507,365
of 14,257,572 outputs
Outputs from Genome Biology (Online Edition)
#1,437
of 3,163 outputs
Outputs of similar age
#41,054
of 336,990 outputs
Outputs of similar age from Genome Biology (Online Edition)
#1
of 2 outputs
Altmetric has tracked 14,257,572 research outputs across all sources so far. Compared to these this one has done well and is in the 89th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,163 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 24.4. This one has gotten more attention than average, scoring higher than 54% 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 336,990 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 87% of its contemporaries.
We're also able to compare this research output to 2 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them