Article

SvAnna: efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing

2021-07-15

Abstract excerpt

Structural variants (SVs) are implicated in the etiology of Mendelian diseases but have been systematically underascertained owing to limitations of existing technology. Recent technological advances such as long-read sequencing (LRS) enable more comprehensive detection of SVs, but approaches for clinical prioritization of candidate SVs are needed. Existing computational approaches do not specifically target LRS d...

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Literature Corpus work: 98a4b697-9521-5f21-b1a8-a3b9d846cf64
DOI: 10.1101/2021.07.14.452267

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