NanoVar: accurate characterization of patients’ genomic structural variants using low-depth nanopore sequencing

NanoVar: accurate characterization of patients’ genomic structural variants using low-depth nanopore sequencing

Abstract The recent advent of third-generation sequencing technologies brings promise for better characterization of genomic structural variants by virtue of having longer reads. However, long-read applications are still constrained by their high sequencing error rates and low sequencing throughput....

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Bibliographic Details
Main Authors: Cheng Yong Tham, Roberto Tirado-Magallanes, Yufen Goh, Melissa J. Fullwood, Bryan T.H. Koh, Wilson Wang, Chin Hin Ng, Wee Joo Chng, Alexandre Thiery, Daniel G. Tenen, Touati Benoukraf
Format: Article
Language:English
Published: BMC 2020-03-01
Series:Genome Biology
Subjects:
Structural variants
SV characterization
Long reads
Oxford Nanopore sequencing
Third-generation sequencing
WGS
Online Access:http://link.springer.com/article/10.1186/s13059-020-01968-7

Internet

http://link.springer.com/article/10.1186/s13059-020-01968-7

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