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cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data

BACKGROUND: With advances in next generation sequencing technology and analysis methods, single nucleotide variants (SNVs) and indels can be detected with high sensitivity and specificity in exome sequencing data. Recent studies have demonstrated the ability to detect disease-causing copy number var...

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Dades bibliogràfiques
Publicat a:BMC Genomics
Autors principals: Samarakoon, Pubudu Saneth, Sorte, Hanne Sørmo, Stray-Pedersen, Asbjørg, Rødningen, Olaug Kristin, Rognes, Torbjørn, Lyle, Robert
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4712464/
https://ncbi.nlm.nih.gov/pubmed/26764020
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12864-016-2374-2
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