Determining multiallelic complex copy number and sequence variation from high coverage exome sequencing data

BACKGROUND: Copy number variation (CNV) is a major component of genomic variation, yet methods to accurately type genomic CNV lag behind methods that type single nucleotide variation. High-throughput sequencing can contribute to these methods by using sequence read depth, which takes the number of r...

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Bibliographic Details
Published in:BMC Genomics
Main Authors: Forni, Diego, Martin, Diana, Abujaber, Razan, Sharp, Andrew J., Sironi, Manuela, Hollox, Edward J.
Format: Artigo
Language:Inglês
Published: BioMed Central 2015
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4630827/
https://ncbi.nlm.nih.gov/pubmed/26526070
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12864-015-2123-y
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