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Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads

Overview of attention for article published in Genome Biology (Online Edition), March 2019
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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 (91st percentile)

Mentioned by

blogs
1 blog
twitter
44 tweeters

Citations

dimensions_citation
52 Dimensions

Readers on

mendeley
129 Mendeley
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Title
Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads
Published in
Genome Biology (Online Edition), March 2019
DOI 10.1186/s13059-019-1667-6
Pubmed ID
Authors

Satomi Mitsuhashi, Martin C. Frith, Takeshi Mizuguchi, Satoko Miyatake, Tomoko Toyota, Hiroaki Adachi, Yoko Oma, Yoshihiro Kino, Hiroaki Mitsuhashi, Naomichi Matsumoto

Abstract

Tandemly repeated DNA is highly mutable and causes at least 31 diseases, but it is hard to detect pathogenic repeat expansions genome-wide. Here, we report robust detection of human repeat expansions from careful alignments of long but error-prone (PacBio and nanopore) reads to a reference genome. Our method is robust to systematic sequencing errors, inexact repeats with fuzzy boundaries, and low sequencing coverage. By comparing to healthy controls, we prioritize pathogenic expansions within the top 10 out of 700,000 tandem repeats in whole genome sequencing data. This may help to elucidate the many genetic diseases whose causes remain unknown.

Twitter Demographics

The data shown below were collected from the profiles of 44 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 129 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 129 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 33 26%
Student > Ph. D. Student 21 16%
Student > Master 17 13%
Student > Bachelor 11 9%
Student > Doctoral Student 9 7%
Other 17 13%
Unknown 21 16%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 51 40%
Agricultural and Biological Sciences 21 16%
Medicine and Dentistry 15 12%
Computer Science 8 6%
Neuroscience 5 4%
Other 8 6%
Unknown 21 16%

Attention Score in Context

This research output has an Altmetric Attention Score of 30. 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 18 March 2021.
All research outputs
#930,067
of 19,853,837 outputs
Outputs from Genome Biology (Online Edition)
#827
of 3,876 outputs
Outputs of similar age
#23,332
of 283,878 outputs
Outputs of similar age from Genome Biology (Online Edition)
#1
of 1 outputs
Altmetric has tracked 19,853,837 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 3,876 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 78% 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 283,878 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 91% of its contemporaries.
We're also able to compare this research output to 1 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