Review paper
Recommendations for clinical interpretation of variants found in non-coding regions of the genome
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
Journal
Volume
14
Issue
1
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