Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease
Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease
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.
Untranslated region, promoters, splicing, rare disease, non-coding, regulatory regions
Martin-Geary, Alexandra C .
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Blakes, Alexander J.M.
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Dawes, Ruebena
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Findlay, Scott D.
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Lord, Jenny
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Baralle, Diana
faac16e5-7928-4801-9811-8b3a9ea4bb91
Martin-Geary, Alexandra C .
53241751-72cf-4c09-a21b-9d5ef44cdcb2
Blakes, Alexander J.M.
dfefed45-fab2-4980-8667-7e46ce0a14f5
Dawes, Ruebena
62350073-493b-4686-83ca-2b495125b7bd
Findlay, Scott D.
fe794e0a-1e7d-4975-bfd9-e71ccd4d48eb
Lord, Jenny
e1909780-36cd-4705-b21e-4580038d4ec6
Baralle, Diana
faac16e5-7928-4801-9811-8b3a9ea4bb91
Martin-Geary, Alexandra C ., Blakes, Alexander J.M. and Dawes, Ruebena
,
et al.
(2025)
Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
Genome Medicine.
(doi:10.1101/2023.09.12.23295416).
(In Press)
Abstract
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.
Text
GenomeMed_manuscript_GELdeNovo_resubmission_manuscript2
- Accepted Manuscript
More information
Accepted/In Press date: 27 March 2025
Keywords:
Untranslated region, promoters, splicing, rare disease, non-coding, regulatory regions
Identifiers
Local EPrints ID: 501071
URI: http://eprints.soton.ac.uk/id/eprint/501071
ISSN: 1756-994X
PURE UUID: 40f982d4-18a4-4e49-b0de-2a3a8b0d01d8
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Date deposited: 22 May 2025 16:40
Last modified: 23 May 2025 01:57
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Contributors
Author:
Alexandra C . Martin-Geary
Author:
Alexander J.M. Blakes
Author:
Ruebena Dawes
Author:
Scott D. Findlay
Author:
Jenny Lord
Corporate Author: et al.
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