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

2022; BioMed Central; Volume: 14; Issue: 1 Linguagem: Inglês

10.1186/s13073-022-01073-3

1756-994X

Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle, Stephanie Barton, C. Ryan Campbell, Kate Downes, Sian Ellard, Celia Duff‐Farrier, David Fitzpatrick, John M. Greally, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C. Martin, William G. Newman, Anne O’Donnell‐Luria, Simon Ramsden, Heidi L. Rehm, Ebony Richardson, Moriel Singer‐Berk, Jenny C. Taylor, Maggie Williams, Jordan C. Wood, Caroline F. Wright, Steven M. Harrison, Nicola Whiffin,

Genomic variations and chromosomal abnormalities

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.