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Incorporating predicted functions of nonsynonymous variants into gene-based analysis of exome sequencing data: a comparative study

Overview of attention for article published in BMC Proceedings, November 2011
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Title
Incorporating predicted functions of nonsynonymous variants into gene-based analysis of exome sequencing data: a comparative study
Published in
BMC Proceedings, November 2011
DOI 10.1186/1753-6561-5-s9-s20
Pubmed ID
Authors

Peng Wei, Xiaoming Liu, Yun-Xin Fu

Abstract

Next-generation sequencing has opened up new avenues for the genetic study of complex traits. However, because of the small number of observations for any given rare allele and high sequencing error, it is a challenge to identify functional rare variants associated with the phenotype of interest. Recent research shows that grouping variants by gene and incorporating computationally predicted functions of variants may provide higher statistical power. On the other hand, many algorithms are available for predicting the damaging effects of nonsynonymous variants. Here, we use the simulated mini-exome data of Genetic Analysis Workshop 17 to study and compare the effects of incorporating the functional predictions of single-nucleotide polymorphisms using two popular algorithms, SIFT and PolyPhen-2, into a gene-based association test. We also propose a simple mixture model that can effectively combine test results based on different functional prediction algorithms.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 42 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 2 5%
United Kingdom 1 2%
Netherlands 1 2%
Unknown 38 90%

Demographic breakdown

Readers by professional status Count As %
Researcher 12 29%
Student > Master 10 24%
Student > Ph. D. Student 7 17%
Student > Bachelor 3 7%
Student > Postgraduate 3 7%
Other 4 10%
Unknown 3 7%
Readers by discipline Count As %
Agricultural and Biological Sciences 18 43%
Biochemistry, Genetics and Molecular Biology 9 21%
Medicine and Dentistry 4 10%
Mathematics 2 5%
Social Sciences 2 5%
Other 5 12%
Unknown 2 5%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 30 November 2014.
All research outputs
#20,245,139
of 22,772,779 outputs
Outputs from BMC Proceedings
#318
of 374 outputs
Outputs of similar age
#218,846
of 240,459 outputs
Outputs of similar age from BMC Proceedings
#32
of 44 outputs
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