Article

Dysgu: efficient structural variant calling using short or long reads

2021-05-28

Abstract excerpt

Structural variation (SV) plays a fundamental role in genome evolution and can underlie inherited or acquired diseases such as cancer. Long-read sequencing technologies have led to improvements in the characterization of structural variants (SVs), although paired-end sequencing offers better scalability. Here, we present dysgu, which calls SVs or indels using paired-end or long reads. Dysgu detects signals from al...

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Literature Corpus work: 170d5c43-661e-5dc5-9151-d7ffe7db51a3
DOI: 10.1101/2021.05.28.446147

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