Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
Alexandra C Martin-GearyAlexander J M BlakesRuebena DawesScott D FindlayJenny LordSusan WalkerJonathan Talbot-MartinNechama WiederElston N D'SouzaMaria FernandesSarah HiltonNayana LahiriChristopher CampbellSarah JenkinsonChristian G E L DeGoedeEmily R AndersonChristopher B BurgeStephan J SandersJamie EllingfordDiana BaralleSiddharth BankaNicola WhiffinPublished in: medRxiv : the preprint server for health sciences (2023)
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.