Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing

Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing

Abstract Background Structural variations (SVs) or copy number variations (CNVs) greatly impact the functions of the genes encoded in the genome and are responsible for diverse human diseases. Although a number of existing SV detection algorithms can detect many types of SVs using whole genome seque...

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Bibliographic Details
Main Authors: Shunichi Kosugi, Yukihide Momozawa, Xiaoxi Liu, Chikashi Terao, Michiaki Kubo, Yoichiro Kamatani
Format: Article
Language:English
Published: BMC 2019-06-01
Series:Genome Biology
Subjects:
Structural variation
SV
Copy number variation
CNV
Next generation sequencing
WGS
Online Access:http://link.springer.com/article/10.1186/s13059-019-1720-5

Internet

http://link.springer.com/article/10.1186/s13059-019-1720-5

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