VEGAWES: variational segmentation on whole exome sequencing for copy number detection.

ABSTRACT:

Background

Copy number variations are important in the detection and progression of significant tumors and diseases. Recently, Whole Exome Sequencing is gaining popularity with copy number variations detection due to low cost and better efficiency. In this work, we developed VEGAWES for accurate and robust detection of copy number variations on WES data. VEGAWES is an extension to a variational based segmentation algorithm, VEGA: Variational estimator for genomic aberrations, which has previously outperformed several algorithms on segmenting array comparative genomic hybridization data.

Results

We tested this algorithm on synthetic data and 100 Glioblastoma Multiforme primary tumor samples. The results on the real data were analyzed with segmentation obtained from Single-nuc

SUBMITTER: Anjum S 

PROVIDER: S-EPMC4587906 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature