Article
Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.
Genome medicine - 14 Apr 2025
Martin-Geary Alexandra C, Blakes Alexander J M, Dawes Ruebena, Findlay Scott D, Lord Jenny, Dong Shan, Walker Susan, Talbot-Martin Jonathan, Wieder Nechama, D'Souza Elston N, Fernandes Maria, Hilton Sarah, Lahiri Nayana, Campbell Christopher, Jenkinson Sarah, DeGoede Christian G E L, Anderson Emily R, Candler Toby, Firth Helen, Burge Christopher B, Sanders Stephan J, Ellingford Jamie, Baralle Diana, Banka Siddharth, Whiffin Nicola
Abstract excerpt
BACKGROUND: Both promoters and untranslated regions (UTRs) have critical regulatory roles, yet variants in these regions are largely excluded from clinical genetic testing due to difficulty in interpreting pathogenicity. The extent to which these regions may harbour diagnoses for individuals with rare disease is currently unknown. METHODS: We present a framework for the identification and annotation of...
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