Article

Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants

2020-11-04

Abstract excerpt

<h4>ABSTRACT</h4> <h4>BACKGROUND</h4> Despite widespread availability of clinical genetic testing, many individuals with suspected genetic conditions do not have a precise diagnosis. This limits their opportunity to take advantage of state-of-the-art treatments. In such instances, testing sometimes reveals difficult-to-evaluate complex structural differences, candidate variants that do not fully explain the phen...

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Literature Corpus work: 2ad877f7-1cc6-5d73-b9b7-619f331b6107
DOI: 10.1101/2020.11.03.365395

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