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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Gepubliceerd in:Genome Biol
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2021
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Online toegang: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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