Identification of copy number variants from exome sequence data

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 challe...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4132917/
https://ncbi.nlm.nih.gov/pubmed/25102989
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2164-15-661
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