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Activity Number: 242
Type: Contributed
Date/Time: Monday, August 1, 2016 : 2:00 PM to 3:50 PM
Sponsor: Biometrics Section
Abstract #319215
Title: Region-Level Differential Methylation Testing with Smoothed Functional Principal Component Analysis
Author(s): Mohamed Milad* and Gayla R. Olbricht
Companies: and Missouri University of Science and Technology
Keywords: Functional Principal Component ; Epigenomics ; DNA Methylation ; Next-Generation Sequencing

DNA methylation is a widely studied epigenetic modification that can alter gene expression without a DNA sequence change. In mammals, DNA methylation occurs almost exclusively in the context of CpG dinucleotides when a methyl group attaches to a cytosine. DNA methylation can be measured at individual cytosine sites genome-wide via bisulfite sequencing paired with next-generation sequencing (NGS). Several statistical methods have been proposed to test for DNA methylation differences at individual cytosines followed by a post-hoc aggregation procedure to explore regional differences. While there are benefits to analyzing CpGs individually, there are both biological and statistical reasons to test entire genomic regions for differential methylation. We present a novel application of smoothed functional principal component analysis that is paired with a statistical test for discovering epigenomic structural variation in NGS data to identify differentially methylated regions. We compare the performance of our approach with an alternative method (M3D) on real and simulated data

Authors who are presenting talks have a * after their name.

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