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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 structures of genomes as well as their evo...

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Главные авторы: HOANG T NGUYEN, James Boocock, Tony R Merriman, Mik A Black
Формат: Artigo
Язык:Inglês
Опубликовано: Frontiers Media S.A. 2016-09-01
Серии:Frontiers in Genetics
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Online-ссылка:http://journal.frontiersin.org/Journal/10.3389/fgene.2016.00160/full
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