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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

Overview of attention for article published in Nature Genetics, February 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 (97th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (51st percentile)

Mentioned by

news
2 news outlets
twitter
115 X users
patent
3 patents
video
1 YouTube creator

Citations

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292 Dimensions

Readers on

mendeley
345 Mendeley
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3 CiteULike
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Title
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
Published in
Nature Genetics, February 2017
DOI 10.1038/ng.3789
Pubmed ID
Authors

Jack A Kosmicki, Kaitlin E Samocha, Daniel P Howrigan, Stephan J Sanders, Kamil Slowikowski, Monkol Lek, Konrad J Karczewski, David J Cutler, Bernie Devlin, Kathryn Roeder, Joseph D Buxbaum, Benjamin M Neale, Daniel G MacArthur, Dennis P Wall, Elise B Robinson, Mark J Daly

Abstract

Recent research has uncovered an important role for de novo variation in neurodevelopmental disorders. Using aggregated data from 9,246 families with autism spectrum disorder, intellectual disability, or developmental delay, we found that ∼1/3 of de novo variants are independently present as standing variation in the Exome Aggregation Consortium's cohort of 60,706 adults, and these de novo variants do not contribute to neurodevelopmental risk. We further used a loss-of-function (LoF)-intolerance metric, pLI, to identify a subset of LoF-intolerant genes containing the observed signal of associated de novo protein-truncating variants (PTVs) in neurodevelopmental disorders. LoF-intolerant genes also carry a modest excess of inherited PTVs, although the strongest de novo-affected genes contribute little to this excess, thus suggesting that the excess of inherited risk resides in lower-penetrant genes. These findings illustrate the importance of population-based reference cohorts for the interpretation of candidate pathogenic variants, even for analyses of complex diseases and de novo variation.

X Demographics

X Demographics

The data shown below were collected from the profiles of 115 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 345 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 2 <1%
Germany 1 <1%
Netherlands 1 <1%
Italy 1 <1%
France 1 <1%
Argentina 1 <1%
United States 1 <1%
Unknown 337 98%

Demographic breakdown

Readers by professional status Count As %
Researcher 76 22%
Student > Ph. D. Student 68 20%
Student > Master 38 11%
Student > Bachelor 29 8%
Other 19 6%
Other 53 15%
Unknown 62 18%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 90 26%
Agricultural and Biological Sciences 76 22%
Medicine and Dentistry 38 11%
Neuroscience 34 10%
Computer Science 11 3%
Other 24 7%
Unknown 72 21%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 81. 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 December 2023.
All research outputs
#526,204
of 25,403,829 outputs
Outputs from Nature Genetics
#1,056
of 7,579 outputs
Outputs of similar age
#11,899
of 432,000 outputs
Outputs of similar age from Nature Genetics
#38
of 77 outputs
Altmetric has tracked 25,403,829 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 97th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 7,579 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 43.0. This one has done well, scoring higher than 86% 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 432,000 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 77 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 51% of its contemporaries.