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Sequencing technologies and tools for short tandem repeat variation detection

Overview of attention for article published in Briefings in Bioinformatics, February 2014
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  • Good Attention Score compared to outputs of the same age (76th percentile)
  • Average Attention Score compared to outputs of the same age and source

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4 X users
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1 patent

Citations

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24 Dimensions

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107 Mendeley
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1 CiteULike
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Title
Sequencing technologies and tools for short tandem repeat variation detection
Published in
Briefings in Bioinformatics, February 2014
DOI 10.1093/bib/bbu001
Pubmed ID
Authors

Minh Duc Cao, Sureshkumar Balasubramanian, Mikael Bodén

Abstract

Short tandem repeats are highly polymorphic and associated with a wide range of phenotypic variation, some of which cause neurodegenerative disease in humans. With advances in high-throughput sequencing technologies, there are novel opportunities to study genetic variation. While available sequencing technologies and bioinformatics tools provide options for mining high-throughput sequencing data, their suitability for analysis of repeat variation is an open question, with tools for quantifying variability in repetitive sequence still in their infancy. We present here a comprehensive survey and empirical evaluation of current sequencing technologies and bioinformatics tools in all stages of an analysis pipeline. While there is not one optimal pipeline to suit all circumstances, we find that the choice of alignment and repeat genotyping tools greatly impacts the accuracy and efficiency by which short tandem repeat variation can be detected. We further note that to detect variation relevant to many repeat diseases, it is essential to choose technologies that offer either long read-lengths or paired-end sequencing, coupled with specific genotyping tools.

X Demographics

X Demographics

The data shown below were collected from the profiles of 4 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 107 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 2 2%
Australia 2 2%
Switzerland 1 <1%
Hong Kong 1 <1%
Italy 1 <1%
Netherlands 1 <1%
Sweden 1 <1%
Brazil 1 <1%
Canada 1 <1%
Other 1 <1%
Unknown 95 89%

Demographic breakdown

Readers by professional status Count As %
Researcher 32 30%
Student > Ph. D. Student 18 17%
Student > Bachelor 10 9%
Student > Master 6 6%
Other 6 6%
Other 18 17%
Unknown 17 16%
Readers by discipline Count As %
Agricultural and Biological Sciences 48 45%
Biochemistry, Genetics and Molecular Biology 20 19%
Medicine and Dentistry 6 6%
Computer Science 6 6%
Business, Management and Accounting 1 <1%
Other 6 6%
Unknown 20 19%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 5. 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 2022.
All research outputs
#6,220,339
of 23,365,820 outputs
Outputs from Briefings in Bioinformatics
#884
of 2,741 outputs
Outputs of similar age
#72,733
of 310,242 outputs
Outputs of similar age from Briefings in Bioinformatics
#6
of 12 outputs
Altmetric has tracked 23,365,820 research outputs across all sources so far. This one has received more attention than most of these and is in the 73rd percentile.
So far Altmetric has tracked 2,741 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.5. This one has gotten more attention than average, scoring higher than 67% 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 310,242 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 76% of its contemporaries.
We're also able to compare this research output to 12 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 50% of its contemporaries.