GRIDSS2: comprehensive characterisation of somatic structural variation using single breakend variants and structural variant phasing

Abstract GRIDSS2 is the first structural variant caller to explicitly report single breakends—breakpoints in which only one side can be unambiguously determined. By treating single breakends as a fundamental genomic rearrangement signal on par with breakpoints, GRIDSS2 can explain 47% of somatic cen...

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Bibliographic Details
Main Authors: Daniel L. Cameron, Jonathan Baber, Charles Shale, Jose Espejo Valle-Inclan, Nicolle Besselink, Arne van Hoeck, Roel Janssen, Edwin Cuppen, Peter Priestley, Anthony T. Papenfuss
Format: Article
Language:English
Published: BMC 2021-07-01
Series:Genome Biology
Online Access:https://doi.org/10.1186/s13059-021-02423-x