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

Volume: 14, Issue: 1
Published: Jul 19, 2022
Abstract
Background 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, there is no existing guidance on how current guidelines...
Paper Details
Title
Recommendations for clinical interpretation of variants found in non-coding regions of the genome
Published Date
Jul 19, 2022
Volume
14
Issue
1
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