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- Title
Statistical challenges associated with detecting copy number variations with next-generation sequencing.
- Authors
Teo, Shu Mei; Pawitan, Yudi; Ku, Chee Seng; Chia, Kee Seng; Salim, Agus
- Abstract
Analysing next-generation sequencing (NGS) data for copy number variations (CNVs) detection is a relatively new and challenging field, with no accepted standard protocols or quality control measures so far. There are by now several algorithms developed for each of the four broad methods for CNV detection using NGS, namely the depth of coverage (DOC), read-pair, split-read and assembly-based methods. However, because of the complexity of the genome and the short read lengths from NGS technology, there are still many challenges associated with the analysis of NGS data for CNVs, no matter which method or algorithm is used.
- Publication
Bioinformatics (Oxford, England), 2012, Vol 28, Issue 21, p2711
- ISSN
1367-4811
- Publication type
Journal Article
- DOI
10.1093/bioinformatics/bts535