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Effective filtering strategies to improve data quality from population-based whole exome sequencing studies

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

  • Above-average Attention Score compared to outputs of the same age (52nd percentile)
  • Above-average Attention Score compared to outputs of the same age and source (54th percentile)

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6 X users

Citations

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108 Dimensions

Readers on

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277 Mendeley
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4 CiteULike
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Title
Effective filtering strategies to improve data quality from population-based whole exome sequencing studies
Published in
BMC Bioinformatics, May 2014
DOI 10.1186/1471-2105-15-125
Pubmed ID
Authors

Andrew R Carson, Erin N Smith, Hiroko Matsui, Sigrid K Brækkan, Kristen Jepsen, John-Bjarne Hansen, Kelly A Frazer

Abstract

Genotypes generated in next generation sequencing studies contain errors which can significantly impact the power to detect signals in common and rare variant association tests. These genotyping errors are not explicitly filtered by the standard GATK Variant Quality Score Recalibration (VQSR) tool and thus remain a source of errors in whole exome sequencing (WES) projects that follow GATK's recommended best practices. Therefore, additional data filtering methods are required to effectively remove these errors before performing association analyses with complex phenotypes. Here we empirically derive thresholds for genotype and variant filters that, when used in conjunction with the VQSR tool, achieve higher data quality than when using VQSR alone.

X Demographics

X Demographics

The data shown below were collected from the profiles of 6 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 277 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%
Italy 2 <1%
Hong Kong 1 <1%
South Africa 1 <1%
Germany 1 <1%
France 1 <1%
Finland 1 <1%
New Zealand 1 <1%
Other 1 <1%
Unknown 264 95%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 67 24%
Researcher 57 21%
Student > Master 38 14%
Other 20 7%
Student > Bachelor 18 6%
Other 41 15%
Unknown 36 13%
Readers by discipline Count As %
Agricultural and Biological Sciences 111 40%
Biochemistry, Genetics and Molecular Biology 72 26%
Medicine and Dentistry 22 8%
Computer Science 11 4%
Neuroscience 8 3%
Other 9 3%
Unknown 44 16%
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 26 September 2016.
All research outputs
#12,898,658
of 22,754,104 outputs
Outputs from BMC Bioinformatics
#3,781
of 7,269 outputs
Outputs of similar age
#106,746
of 227,752 outputs
Outputs of similar age from BMC Bioinformatics
#60
of 137 outputs
Altmetric has tracked 22,754,104 research outputs across all sources so far. This one is in the 42nd percentile – i.e., 42% of other outputs scored the same or lower than it.
So far Altmetric has tracked 7,269 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.4. This one is in the 45th percentile – i.e., 45% 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 227,752 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 52% of its contemporaries.
We're also able to compare this research output to 137 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 54% of its contemporaries.