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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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Detalles Bibliográficos
Autores principales: Nguyen, Hoang T., Boocock, James, Merriman, Tony R., Black, Michael A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023681/
https://www.ncbi.nlm.nih.gov/pubmed/27695476
http://dx.doi.org/10.3389/fgene.2016.00160