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Modeling Read Counts for CNV Detection in Exome Sequencing Data

Varying depth of high-throughput sequencing reads along a chromosome makes it possible to observe copy number variants (CNVs) in a sample relative to a reference. In exome and other targeted sequencing projects, technical factors increase variation in read depth while reducing the number of observed...

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Bibliografiske detaljer
Main Authors: Love, Michael I., Myšičková, Alena, Sun, Ruping, Kalscheuer, Vera, Vingron, Martin, Haas, Stefan A.
Format: Artigo
Sprog:Inglês
Udgivet: De Gruyter 2011
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3517018/
https://ncbi.nlm.nih.gov/pubmed/23089826
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2202/1544-6115.1732
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