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Updated: Oct 29, 2025

Following the Dynamics of Structural Variants in Experimentally Evolved Populations
Published on: February 3, 2023
GRIDSS2: comprehensive characterisation of somatic structural variation using single breakend variants and structural
Daniel L Cameron1,2,3, Jonathan Baber4,5, Charles Shale4,5
1Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Australia. cameron.d@wehi.edu.au.
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 centromere copy number changes using single breakends to non-centromere sequence. On a cohort of 3782 deeply sequenced metastatic cancers, GRIDSS2 achieves an unprecedented 3.1% false negative rate and 3.3% false discovery rate and identifies a novel 32-100 bp duplication signature. GRIDSS2 simplifies complex rearrangement interpretation through phasing of structural variants with 16% of somatic calls phasable using paired-end sequencing.
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