Article

LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data

2018-09-06

Abstract excerpt

Linked-read sequencing provides long-range information on short-read sequencing data by barcoding reads originating from the same DNA molecule, and can improve the detection and breakpoint identification for structural variants (SVs). We present LinkedSV for SV detection on linked-read sequencing data. LinkedSV considers barcode overlapping and enriched fragment endpoints as signals to detect large SVs, while it l...

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Literature Corpus work: 77e52a51-0bd1-5749-a885-c9acc3d5385e
DOI: 10.1101/409789

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