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

Jamie M EllingfordJoo Wook AhnRichard D BagnallDiana BaralleStephanie BartonChris CampbellKate DownesSian EllardCelia Duff-FarrierDavid R FitzPatrickJohn M GreallyJodie InglesNeesha KrishnanJenny LordHilary C MartinWilliam G NewmanAnne O'Donnell-LuriaSimon C RamsdenHeidi L RehmEbony RichardsonMoriel Singer-BerkJenny C TaylorMaggie WilliamsJordan C WoodCaroline F WrightSteven M HarrisonNicola Whiffin

Published in: Genome medicine (2022)

These recommendations aim to increase the number and range of non-coding region variants that can be clinically interpreted, which, together with a compatible phenotype, can lead to new diagnoses and catalyse the discovery of novel disease mechanisms.

Keyphrases

copy number
clinical practice
small molecule
genome wide
high throughput
gene expression
dna methylation