Article

Recommendations for clinical interpretation of variants found in non-coding regions of the genome

2021-12-29

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> The majority of clinical genetic testing focuses almost exclusively on regions of the genome that directly encode proteins. The important role of variants in non-coding regions in penetrant disease is, however, increasingly being demonstrated, and the use of whole genome sequencing in clinical diagnostic settings is rising across a large range of genetic disorders. Despite this,...

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Literature Corpus work: 247c965a-95cc-5a08-89ff-3fb12638df29
DOI: 10.1101/2021.12.28.21267792

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