Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease
Whilst screening promoters and UTRs can uncover additional diagnoses for individuals with rare disease, including these regions in diagnostic pipelines is not likely to dramatically increase diagnostic yield. Nevertheless, we provide a framework to aid identification of these variants.
Authors
- Ruebena Dawes (ORCID: https://orcid.org/0000-0003-2135-0117)
- Susan Walker (ORCID: https://orcid.org/0000-0002-5016-6426)
- Jenny Lord (ORCID: https://orcid.org/0000-0002-0539-9343)
- Elston N. D’Souza (ORCID: https://orcid.org/0000-0002-5394-7260)
- Toby Candler (ORCID: https://orcid.org/0000-0002-4587-8744)
- Alexander J. M. Blakes (ORCID: https://orcid.org/0000-0002-0260-7020)
- Christopher B. Burge (ORCID: https://orcid.org/0000-0001-9047-5648)
- Helen V. Firth (ORCID: https://orcid.org/0000-0002-6410-0882)
- Stephan Sanders (ORCID: https://orcid.org/0000-0001-9112-5148)
- Siddharth Banka (ORCID: https://orcid.org/0000-0002-8527-2210)
- Jamie M. Ellingford (ORCID: https://orcid.org/0000-0003-1137-9768)
- Sarah K. Hilton (ORCID: https://orcid.org/0000-0001-9278-3644)
- Nayana Lahiri (ORCID: https://orcid.org/0000-0002-6260-7700)
- Nicola Whiffin (ORCID: https://orcid.org/0000-0003-1554-6594)
- Alexandra C Martin-Geary (ORCID: https://orcid.org/0000-0002-5818-1962)
- Shan Dong (ORCID: https://orcid.org/0000-0001-9130-0225)
- Emily E. Anderson (ORCID: https://orcid.org/0000-0003-2197-1239)
- Nechama Wieder
- Jonathan Talbot-Martin
- Scott D. Findlay (ORCID: https://orcid.org/0000-0002-0393-1623)
- Diana Baralle
- Christopher Campbell (ORCID: https://orcid.org/0000-0003-2844-3543)
- Maria Fernandes
- Christian G E L DeGoede
- Sarah Jenkinson
Institutions
- Manchester Metropolitan University (GB)
- Lancashire Teaching Hospitals NHS Foundation Trust (GB)
- Centre for Human Genetics (GB)
- University of Liverpool (GB)
- University of California, San Francisco (US)
- University of Cambridge (GB)
- Manchester Academic Health Science Centre (GB)
- Bristol Royal Hospital for Children (GB)
- Cambridge University Hospitals NHS Foundation Trust (GB)
- Wellcome Sanger Institute (GB)
- Open Data Institute (GB)
- University of Manchester (GB)
- University of Oxford (GB)
- Manchester University NHS Foundation Trust (GB)
- Liverpool Women's Hospital (GB)
- NIHR Bristol Biomedical Research Centre (GB)
- Genomics England (GB)
- New York Genome Center (US)
- University of Southampton (GB)
- Massachusetts Institute of Technology (US)
- East Lancashire Hospitals NHS Trust (GB)
Publication Details
- Journal
- Genome Medicine
- Published
- 2025-04-14
- DOI
- https://doi.org/10.1186/s13073-025-01464-2
- Citations
- 4
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 7.27
Funders
- National Institute for Health and Care Research
- Department of Health and Social Care
- Manchester Biomedical Research Centre