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...
Main Authors: | , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2021-07-01
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Series: | Genome Biology |
Online Access: | https://doi.org/10.1186/s13059-021-02423-x |