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Realizing the significance of noncoding functionality in clinical genomics

Abstract

Clinical genomics promises unprecedented precision in understanding the genetic basis of disease. Understanding the impact of variation across the genome is required to realize this potential. Currently, clinical genomics analyses focus on protein-coding genes. However, the noncoding genome is substantially larger than the protein-coding counterpart, and contains structural, regulatory, and transcribed information that needs to be incorporated into genome annotations if the full extent of the opportunity to use genomic information in healthcare is to be realized. This article reviews the challenges and opportunities in unlocking the clinical significance of coding and noncoding genomic information and translating its utility in practice.

Type Journal
ISBN 1226-3613
Authors Gloss, B. S.; Dinger, M. E.
Responsible Garvan Author Dr Brian Gloss
Publisher Name EXPERIMENTAL AND MOLECULAR MEDICINE
Published Date 2018-08-07
Published Volume 50
Published Issue 8
Published Pages 97
Status Published in-print
DOI 10.1038/s12276-018-0087-0