1 Result(s)

Article

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

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...

Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle… in Genome Medicine (2022)