Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.

Alexandra C Martin-Geary,Alexander J M Blakes,Ruebena Dawes,Scott D Findlay,Jenny Lord,Susan Walker, Jonathan Talbot-Martin, Nechama Wieder,Elston N D'Souza,Maria Fernandes,Sarah Hilton,Nayana Lahiri,Christopher Campbell,Sarah Jenkinson, Christian G E L DeGoede,Emily R Anderson,Christopher B Burge,Stephan J Sanders,Jamie Ellingford,Diana Baralle,Siddharth Banka,Nicola Whiffin

medRxiv : the preprint server for health sciences（2023）

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摘要

Overall, we demonstrate the value of screening promoters and UTRs to uncover additional diagnoses for previously undiagnosed individuals with rare disease and provide a framework for doing so without dramatically increasing interpretation burden.

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