A pipeline for complete characterization of complex germline rearrangements from long DNA reads

A pipeline for complete characterization of complex germline rearrangements from long DNA reads

Abstract Background Many genetic/genomic disorders are caused by genomic rearrangements. Standard methods can often characterize these variations only partly, e.g., copy number changes or breakpoints. It is important to fully understand the order and orientation of rearranged fragments, with precise...

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Bibliographic Details
Main Authors: Satomi Mitsuhashi, Sachiko Ohori, Kazutaka Katoh, Martin C. Frith, Naomichi Matsumoto
Format: Article
Language:English
Published: BMC 2020-07-01
Series:Genome Medicine
Subjects:
Long read sequencing
Chromosomal translocations/rearrangements
Chromothripsis
Structural variation
Online Access:http://link.springer.com/article/10.1186/s13073-020-00762-1

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http://link.springer.com/article/10.1186/s13073-020-00762-1

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