MATCHCLIP: Locate precise breakpoints for copy number variation using CIGAR string by matching soft clipped reads

MATCHCLIP: Locate precise breakpoints for copy number variation using CIGAR string by matching soft clipped reads

Copy number variations (CNVs) are associated with many complex diseases. Next generation sequencing data enable one to identify precise CNV breakpoints to better under the underlying molecular mechanisms and to design more efficient assays. Using the CIGAR strings of the reads, we develop a method t...

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Bibliographic Details
Main Authors: Yinghua eWu, Lifeng eTian, Mario ePirastu, Dwight eStambolian, Hongzhe eLi
Format: Article
Language:English
Published: Frontiers Media S.A. 2013-08-01
Series:Frontiers in Genetics
Subjects:
duplication
deletion
detection
CNV
structural variation
breakpoint
Online Access:http://journal.frontiersin.org/Journal/10.3389/fgene.2013.00157/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fgene.2013.00157/full

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