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cnvOffSeq: detecting intergenic copy number variation using off-target exome sequencing data

Overview of attention for article published in Bioinformatics, August 2014
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (92nd percentile)
  • High Attention Score compared to outputs of the same age and source (87th percentile)

Mentioned by

blogs
1 blog
twitter
11 X users
patent
2 patents
googleplus
1 Google+ user

Citations

dimensions_citation
14 Dimensions

Readers on

mendeley
61 Mendeley
citeulike
2 CiteULike
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Title
cnvOffSeq: detecting intergenic copy number variation using off-target exome sequencing data
Published in
Bioinformatics, August 2014
DOI 10.1093/bioinformatics/btu475
Pubmed ID
Authors

Evangelos Bellos, Lachlan J M Coin

Abstract

Exome sequencing technologies have transformed the field of Mendelian genetics and allowed for efficient detection of genomic variants in protein-coding regions. The target enrichment process that is intrinsic to exome sequencing is inherently imperfect, generating large amounts of unintended off-target sequence. Off-target data are characterized by very low and highly heterogeneous coverage and are usually discarded by exome analysis pipelines. We posit that off-target read depth is a rich, but overlooked, source of information that could be mined to detect intergenic copy number variation (CNV). We propose cnvOffseq, a novel normalization framework for off-target read depth that is based on local adaptive singular value decomposition (SVD). This method is designed to address the heterogeneity of the underlying data and allows for accurate and precise CNV detection and genotyping in off-target regions.

X Demographics

X Demographics

The data shown below were collected from the profiles of 11 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 61 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 3 5%
United Kingdom 2 3%
France 1 2%
South Africa 1 2%
Unknown 54 89%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 17 28%
Researcher 17 28%
Student > Master 5 8%
Student > Postgraduate 4 7%
Student > Bachelor 4 7%
Other 8 13%
Unknown 6 10%
Readers by discipline Count As %
Agricultural and Biological Sciences 25 41%
Biochemistry, Genetics and Molecular Biology 14 23%
Computer Science 6 10%
Medicine and Dentistry 2 3%
Business, Management and Accounting 1 2%
Other 5 8%
Unknown 8 13%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 19. 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 27 April 2022.
All research outputs
#1,937,343
of 25,373,627 outputs
Outputs from Bioinformatics
#1,164
of 12,808 outputs
Outputs of similar age
#19,618
of 247,499 outputs
Outputs of similar age from Bioinformatics
#28
of 230 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 92nd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 12,808 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.0. This one has done particularly well, scoring higher than 90% 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 247,499 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 92% of its contemporaries.
We're also able to compare this research output to 230 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 87% of its contemporaries.