Article

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

2023-09-12

Abstract excerpt

<h4>Background</h4> 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. <h4>Methods</h4> We present a framework for the identification and annotatio...

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Literature Corpus work: 49d66241-5432-5706-a50e-3b91d1e9f9e9
DOI: 10.1101/2023.09.12.23295416

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