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Article

Inferring copy number and genotype in tumour exome data.

BMC genomics - 28 Aug 2014

Amarasinghe Kaushalya C, Li Jason, Hunter Sally M, Ryland Georgina L, Cowin Prue A, Campbell Ian G, Halgamuge Saman K

Abstract excerpt

BACKGROUND: Using whole exome sequencing to predict aberrations in tumours is a cost effective alternative to whole genome sequencing, however is predominantly used for variant detection and infrequently utilised for detection of somatic copy number variation. RESULTS: We propose a new method to infer copy number and genotypes using whole exome data from paired tumour/normal samples. Our algorithm uses two Hidden...

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Identifiers

PMID: 25167919
DOI: 10.1186/1471-2164-15-732
PMCID: PMC4162913

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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