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New insights into the generation and role of de novo mutations in health and disease

Overview of attention for article published in Genome Biology (Online Edition), November 2016
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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 (94th percentile)
  • Good Attention Score compared to outputs of the same age and source (77th percentile)

Citations

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236 Dimensions

Readers on

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470 Mendeley
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Title
New insights into the generation and role of de novo mutations in health and disease
Published in
Genome Biology (Online Edition), November 2016
DOI 10.1186/s13059-016-1110-1
Pubmed ID
Authors

Rocio Acuna-Hidalgo, Joris A. Veltman, Alexander Hoischen

Abstract

Aside from inheriting half of the genome of each of our parents, we are born with a small number of novel mutations that occurred during gametogenesis and postzygotically. Recent genome and exome sequencing studies of parent-offspring trios have provided the first insights into the number and distribution of these de novo mutations in health and disease, pointing to risk factors that increase their number in the offspring. De novo mutations have been shown to be a major cause of severe early-onset genetic disorders such as intellectual disability, autism spectrum disorder, and other developmental diseases. In fact, the occurrence of novel mutations in each generation explains why these reproductively lethal disorders continue to occur in our population. Recent studies have also shown that de novo mutations are predominantly of paternal origin and that their number increases with advanced paternal age. Here, we review the recent literature on de novo mutations, covering their detection, biological characterization, and medical impact.

Twitter Demographics

The data shown below were collected from the profiles of 23 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 470 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 2 <1%
United Kingdom 2 <1%
Sweden 1 <1%
Canada 1 <1%
Hungary 1 <1%
Unknown 463 99%

Demographic breakdown

Readers by professional status Count As %
Researcher 96 20%
Student > Ph. D. Student 87 19%
Student > Bachelor 69 15%
Student > Master 56 12%
Student > Doctoral Student 23 5%
Other 66 14%
Unknown 73 16%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 162 34%
Agricultural and Biological Sciences 85 18%
Medicine and Dentistry 57 12%
Neuroscience 24 5%
Psychology 10 2%
Other 41 9%
Unknown 91 19%

Attention Score in Context

This research output has an Altmetric Attention Score of 36. 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 06 May 2021.
All research outputs
#766,930
of 19,211,930 outputs
Outputs from Genome Biology (Online Edition)
#660
of 3,811 outputs
Outputs of similar age
#22,709
of 409,284 outputs
Outputs of similar age from Genome Biology (Online Edition)
#61
of 262 outputs
Altmetric has tracked 19,211,930 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 96th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,811 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 26.9. This one has done well, scoring higher than 82% 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 409,284 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 262 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 77% of its contemporaries.