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Genome-wide patterns and properties of de novo mutations in humans

Overview of attention for article published in Nature Genetics, May 2015
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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 (99th percentile)
  • High Attention Score compared to outputs of the same age and source (94th percentile)

Mentioned by

news
9 news outlets
blogs
5 blogs
twitter
146 X users
facebook
4 Facebook pages
q&a
1 Q&A thread

Citations

dimensions_citation
355 Dimensions

Readers on

mendeley
591 Mendeley
citeulike
9 CiteULike
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Title
Genome-wide patterns and properties of de novo mutations in humans
Published in
Nature Genetics, May 2015
DOI 10.1038/ng.3292
Pubmed ID
Authors

Laurent C Francioli, Paz P Polak, Amnon Koren, Androniki Menelaou, Sung Chun, Ivo Renkens, Cornelia M van Duijn, Morris Swertz, Cisca Wijmenga, Gertjan van Ommen, P Eline Slagboom, Dorret I Boomsma, Kai Ye, Victor Guryev, Peter F Arndt, Wigard P Kloosterman, Paul I W de Bakker, Shamil R Sunyaev

Abstract

Mutations create variation in the population, fuel evolution and cause genetic diseases. Current knowledge about de novo mutations is incomplete and mostly indirect. Here we analyze 11,020 de novo mutations from the whole genomes of 250 families. We show that de novo mutations in the offspring of older fathers are not only more numerous but also occur more frequently in early-replicating, genic regions. Functional regions exhibit higher mutation rates due to CpG dinucleotides and show signatures of transcription-coupled repair, whereas mutation clusters with a unique signature point to a new mutational mechanism. Mutation and recombination rates independently associate with nucleotide diversity, and regional variation in human-chimpanzee divergence is only partly explained by heterogeneity in mutation rate. Finally, we provide a genome-wide mutation rate map for medical and population genetics applications. Our results provide new insights and refine long-standing hypotheses about human mutagenesis.

X Demographics

X Demographics

The data shown below were collected from the profiles of 146 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 591 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 11 2%
France 3 <1%
United Kingdom 3 <1%
Italy 2 <1%
Korea, Republic of 2 <1%
Sweden 2 <1%
Germany 2 <1%
Turkey 1 <1%
New Zealand 1 <1%
Other 6 1%
Unknown 558 94%

Demographic breakdown

Readers by professional status Count As %
Researcher 151 26%
Student > Ph. D. Student 139 24%
Student > Bachelor 57 10%
Student > Master 52 9%
Student > Doctoral Student 32 5%
Other 95 16%
Unknown 65 11%
Readers by discipline Count As %
Agricultural and Biological Sciences 243 41%
Biochemistry, Genetics and Molecular Biology 174 29%
Medicine and Dentistry 47 8%
Computer Science 15 3%
Mathematics 8 1%
Other 28 5%
Unknown 76 13%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 191. 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 15 March 2023.
All research outputs
#208,426
of 25,400,630 outputs
Outputs from Nature Genetics
#341
of 7,579 outputs
Outputs of similar age
#2,109
of 279,433 outputs
Outputs of similar age from Nature Genetics
#6
of 85 outputs
Altmetric has tracked 25,400,630 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 99th 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 particularly well, scoring higher than 95% 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 279,433 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 99% of its contemporaries.
We're also able to compare this research output to 85 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 94% of its contemporaries.