Article

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

2020-07-10

Abstract excerpt

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 centromeric copy number changes using single breakends to non-centromeric sequence, with chromosome 1 exhibiting a unique centr...

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Literature Corpus work: 3acc1df8-f6b7-5112-8c52-98d2ca1848ec
DOI: 10.1101/2020.07.09.196527

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