Article

Identifying structural variants using linked-read sequencing data

2017-09-18

Abstract excerpt

Structural variation, including large deletions, duplications, inversions, translocations, and other rearrangements, is common in human and cancer genomes. A number of methods have been developed to identify structural variants from Illumina short-read sequencing data. However, reliable identification of structural variants remains challenging because many variants have breakpoints in repetitive regions of the gen...

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Literature Corpus work: df7eedf5-fae6-580c-beeb-3ec16eaec493
DOI: 10.1101/190454

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