Recommendations for clinical interpretation of variants found in non-coding regions of the genome
Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle, Stephanie Barton, Chris Campbell, Kate Downes, Sian Ellard, Celia R. A. Duff‐Farrier, David R FitzPatrick, John M. Greally, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C. Martin, , Nicola Whiffin
This paper provides recommendations for interpreting non-coding variants in clinical settings, adapting existing guidelines to account for their role in disease.
Genome Medicine · Jul 18, 2022Peer-reviewedGenetic & Genomic Medicine