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Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease
2023-09-12
genetic and genomic medicine
Title + abstract only
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BackgroundBoth 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. MethodsWe present a framework for the identification and annotation of potentially deleterious proximal promoter and UTR variants in known dominant disease genes. We us...
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