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

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 c...

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Foilsithe in:Genome Biol
Main Authors: Cameron, Daniel L., Baber, Jonathan, Shale, Charles, Valle-Inclan, Jose Espejo, Besselink, Nicolle, van Hoeck, Arne, Janssen, Roel, Cuppen, Edwin, Priestley, Peter, Papenfuss, Anthony T.
Formáid: Artigo
Teanga:Inglês
Foilsithe: BioMed Central 2021
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Method
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC8274009/
https://ncbi.nlm.nih.gov/pubmed/34253237
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-021-02423-x
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