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Interrogating the “unsequenceable” genomic trinucleotide repeat disorders by long-read sequencing

Overview of attention for article published in Genome Medicine, July 2017
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  • Above-average Attention Score compared to outputs of the same age (54th percentile)

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Title
Interrogating the “unsequenceable” genomic trinucleotide repeat disorders by long-read sequencing
Published in
Genome Medicine, July 2017
DOI 10.1186/s13073-017-0456-7
Pubmed ID
Authors

Qian Liu, Peng Zhang, Depeng Wang, Weihong Gu, Kai Wang

Abstract

Microsatellite expansion, such as trinucleotide repeat expansion (TRE), is known to cause a number of genetic diseases. Sanger sequencing and next-generation short-read sequencing are unable to interrogate TRE reliably. We developed a novel algorithm called RepeatHMM to estimate repeat counts from long-read sequencing data. Evaluation on simulation data, real amplicon sequencing data on two repeat expansion disorders, and whole-genome sequencing data generated by PacBio and Oxford Nanopore technologies showed superior performance over competing approaches. We concluded that long-read sequencing coupled with RepeatHMM can estimate repeat counts on microsatellites and can interrogate the "unsequenceable" genomic trinucleotide repeat disorders.

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X Demographics

The data shown below were collected from the profiles of 5 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 151 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 151 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 28 19%
Researcher 23 15%
Student > Master 15 10%
Student > Bachelor 14 9%
Student > Doctoral Student 9 6%
Other 26 17%
Unknown 36 24%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 51 34%
Agricultural and Biological Sciences 28 19%
Medicine and Dentistry 11 7%
Neuroscience 5 3%
Computer Science 5 3%
Other 10 7%
Unknown 41 27%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 22 July 2017.
All research outputs
#7,534,266
of 22,988,380 outputs
Outputs from Genome Medicine
#1,134
of 1,445 outputs
Outputs of similar age
#120,268
of 314,952 outputs
Outputs of similar age from Genome Medicine
#26
of 28 outputs
Altmetric has tracked 22,988,380 research outputs across all sources so far. This one is in the 44th percentile – i.e., 44% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,445 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 25.8. This one is in the 18th percentile – i.e., 18% of its peers scored the same or lower than it.
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 314,952 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 54% of its contemporaries.
We're also able to compare this research output to 28 others from the same source and published within six weeks on either side of this one. This one is in the 7th percentile – i.e., 7% of its contemporaries scored the same or lower than it.