MSV: a modular structural variant caller that reveals nested and complex rearrangements by unifying breakends inferred directly from reads

Abstract Structural variant (SV) calling belongs to the standard tools of modern bioinformatics for identifying and describing alterations in genomes. Initially, this work presents several complex genomic rearrangements that reveal conceptual ambiguities inherent to the representation via basic SV....

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Bibliographic Details
Main Authors: Markus Schmidt, Arne Kutzner
Format: Article
Language:English
Published: BMC 2023-07-01
Series:Genome Biology
Subjects:
Online Access:https://doi.org/10.1186/s13059-023-03009-5