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CoNVEX: Copy number variation estimation in exome sequencing data using HMM

Amarasinghe, Kaushalya C.; Li, Jason; Halgamuge, Saman

Description

Background One of the main types of genetic variations in cancer is Copy Number Variations (CNV). Whole exome sequenicng (WES) is a popular alternative to whole genome sequencing (WGS) to study disease specific genomic variations. However, finding CNV in Cancer samples using WES data has not been fully explored. Results We present a new method, called CoNVEX, to estimate copy number variation in whole exome sequencing data. It uses ratio of tumour and matched normal average read depths at...[Show more]

CollectionsANU Research Publications
Date published: 2013
Type: Journal article
URI: http://hdl.handle.net/1885/153010
Source: BMC Bioinformatics
DOI: 10.1186/1471-2105-14-S2-S2
Access Rights: Open Access

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