CNV-TV: a robust method to discover copy number variation from short sequencing reads.

ABSTRACT:

Background

Copy number variation (CNV) is an important structural variation (SV) in human genome. Various studies have shown that CNVs are associated with complex diseases. Traditional CNV detection methods such as fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (aCGH) suffer from low resolution. The next generation sequencing (NGS) technique promises a higher resolution detection of CNVs and several methods were recently proposed for realizing such a promise. However, the performances of these methods are not robust under some conditions, e.g., some of them may fail to detect CNVs of short sizes. There has been a strong demand for reliable detection of CNVs from high resolution NGS data.

Results

A novel and robust method to detect CNV f

SUBMITTER: Duan J 

PROVIDER: S-EPMC3679874 | biostudies-literature | 2013 May

REPOSITORIES: biostudies-literature