SRBreak: A read-depth and split-read framework to identify breakpoints of different events inside simple copy-number variable regions

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 structures of genomes as well as their evo...

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Bibliographic Details
Main Authors: HOANG T NGUYEN, James Boocock, Tony R Merriman, Mik A Black
Format: Article
Language:English
Published: Frontiers Media S.A. 2016-09-01
Series:Frontiers in Genetics
Subjects:
Copy number variant (CNV)
structural variation (SV)
read depth
breakpoint cluster region
split read
Online Access:http://journal.frontiersin.org/Journal/10.3389/fgene.2016.00160/full

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