Detection and visualization of complex structural variants from long reads

Detection and visualization of complex structural variants from long reads

Abstract Background With applications in cancer, drug metabolism, and disease etiology, understanding structural variation in the human genome is critical in advancing the thrusts of individualized medicine. However, structural variants (SVs) remain challenging to detect with high sensitivity using...

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Bibliographic Details
Main Authors: Zachary Stephens, Chen Wang, Ravishankar K. Iyer, Jean-Pierre Kocher
Format: Article
Language:English
Published: BMC 2018-12-01
Series:BMC Bioinformatics
Subjects:
Structural variation
Complex rearrangement
Long read
Online Access:http://link.springer.com/article/10.1186/s12859-018-2539-x

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