Modified screening and ranking algorithm for copy number variation detection.

ABSTRACT:

Motivation

Copy number variation (CNV) is a type of structural variation, usually defined as genomic segments that are 1 kb or larger, which present variable copy numbers when compared with a reference genome. The screening and ranking algorithm (SaRa) was recently proposed as an efficient approach for multiple change-points detection, which can be applied to CNV detection. However, some practical issues arise from application of SaRa to single nucleotide polymorphism data.

Results

In this study, we propose a modified SaRa on CNV detection to address these issues. First, we use the quantile normalization on the original intensities to guarantee that the normal mean model-based SaRa is a robust method. Second, a novel normal mixture model coupled with a modified Bayesian info

SUBMITTER: Xiao F 

PROVIDER: S-EPMC4410664 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature