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 designed primarily for variants in protein-coding regions should be adapted for variants identified in other genomic contexts.

Methods

We convened a panel of nine clinical and research scientists with wide-ranging expertise in clinical variant interpretation, with specific experience in variants within non-coding regions. This panel d

SUBMITTER: Ellingford JM 

PROVIDER: S-EPMC9295495 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature