Article
Copy number analysis of whole-genome data using BIC-seq2 and its application to detection of cancer susceptibility variants
3 Jun 2016
Abstract excerpt
Whole-genome sequencing data allow detection of copy number variation (CNV) at high resolution. However, estimation based on read coverage along the genome suffers from bias due to GC content and other factors. Here, we develop an algorithm called BIC-seq2 that combines normalization of the data at the nucleotide level and Bayesian information criterion-based segmentation to detect both somatic and germline CNVs...
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