Bioinformatics Seminars

Bioinformatics Seminar

Time: 11AM
Venue: Zoom Webinar

16 March 2021

Single breakend variant calling: a new approach to structural variant detection.

Daniel Cameron
WEHI Bioinformatics

To date, structural variant calling has been synonymous with breakpoint identification. While the techniques for detecting breakpoints have advanced over the last decade, they are still fundamentally limited to the detection of rearrangements between mappable regions of the genome. Single breakend variant calling addresses this limitation by explicitly incorporating mapping ambiguity into the variant call itself. Along with breakpoints and copy number segments, single breakends represent a fundamental building block from which all genome rearrangement can be represented. Single breakend variant calling represents a significant conceptual advancement in the treatment of genomic rearrangements that enables the detection of structural variants in regions considered inaccessible to short read sequencing.

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