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SRBreak: A Read-Depth and Split-Read Framework to Identify Breakpoints of Different Events Inside Simple Copy-Number Variable Regions

Copy-number variation (CNV) has been associated with increased risk of complex diseases. High-throughput sequencing (HTS) technologies facilitate the detection of copy-number variable regions (CNVRs) and their breakpoints. This helps in understanding genome structure as well as their evolution proce...

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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Nguyen, Hoang T., Boocock, James, Merriman, Tony R., Black, Michael A.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5023681/
https://ncbi.nlm.nih.gov/pubmed/27695476
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2016.00160
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