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...

Täydet tiedot

Bibliografiset tiedot
Päätekijät: 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
Aineistotyyppi: Artikkeli
Kieli:English
Julkaistu: BMC 2021-07-01
Sarja:Genome Biology
Linkit:https://doi.org/10.1186/s13059-021-02423-x