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Activity Number: 495
Type: Topic Contributed
Date/Time: Wednesday, August 1, 2012 : 10:30 AM to 12:20 PM
Sponsor: Biometrics Section
Abstract - #305146
Title: Differential Usage of RNA Isoforms
Author(s): Wei Sun*+ and Hua Zhou and Pei Fen Kuan and Haitao Chu and Yichao Wu and Yufeng Liu
Companies: The University of North Carolina at Chapel Hill and North Carolina State University and The University of North Carolina at Chapel Hill and University of Minnesota and North Carolina State University and The University of North Carolina at Chapel Hill
Address: Department of Biostatistics, Chapel Hill, NC, 27599,
Keywords: eQTL ; RNA-seq ; RNA isoform ; penalized regression ; negative binomial ; gene expression

The study of RNA isoform expression is of great importance for understanding gene expression regulation and the molecular basis of complex phenotypes, such as human diseases. Using RNA-seq data, we have developed a statistical method (named as isoDetector) for isoform deconvolution (i.e., to dissect expressed isoforms and to estimate their expression abundances) and hypothesis testing of differential isoform usage, which refers to the changes of RNA-isoform expression relative to the expression of the corresponding gene. We model the numbers of RNA-seq fragments across any exon sets by negative binomial distribution, and achieve accurate isoform deconvolution by a penalized regression approach. Differential isoform usage of a gene is assessed by a likelihood ratio test statistic. Both simulation and real data studies demonstrate that isoDetector achieves accurate isoform deconvolution and delivers greatly improved sensitivity and specificity to detect differential isoform usage. We also discuss the application of isoDetector on isoform-specific eQTL mapping.

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