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Article

Identification of copy number variants from exome sequence data.

BMC genomics - 7 Aug 2014

Samarakoon Pubudu Saneth, Sorte Hanne Sørmo, Kristiansen Bjørn Evert, Skodje Tove, Sheng Ying, Tjønnfjord Geir E, Stadheim Barbro, Stray-Pedersen Asbjørg, Rødningen Olaug Kristin, Lyle Robert

Abstract excerpt

BACKGROUND: With advances in next generation sequencing technologies and genomic capture techniques, exome sequencing has become a cost-effective approach for mutation detection in genetic diseases. However, computational prediction of copy number variants (CNVs) from exome sequence data is a challenging task. Whilst numerous programs are available, they have different sensitivities, and have low sensitivity to...

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PMID: 25102989
DOI: 10.1186/1471-2164-15-661
PMCID: PMC4132917

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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