Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach
This work demonstrates the utility of an RNA-centric approach in identifying novel diagnoses in patients without candidate VUSs. It underscores the utility of blood-based RNA analysis in improving diagnostic yields and highlights optimal approaches for such analyses.
Authors
- Jenny Lord (ORCID: https://orcid.org/0000-0002-0539-9343)
- Andrew G. L. Douglas (ORCID: https://orcid.org/0000-0001-5154-6714)
- Htoo A. Wai (ORCID: https://orcid.org/0000-0002-3560-6980)
- Diana Baralle (ORCID: https://orcid.org/0000-0003-3217-4833)
- David Hunt (ORCID: https://orcid.org/0000-0002-7567-5649)
- David J. Bunyan (ORCID: https://orcid.org/0000-0001-8686-558X)
- Carolina Jaramillo Oquendo (ORCID: https://orcid.org/0000-0002-9875-0998)
- N. Simon Thomas (ORCID: https://orcid.org/0000-0002-1494-2467)
- Wil I Rich
Institutions
- Salisbury District Hospital (GB)
- Southampton General Hospital (GB)
- University Hospital Southampton NHS Foundation Trust (GB)
- Oxford University Hospitals NHS Trust (GB)
- University of Southampton (GB)
Publication Details
- Journal
- Genome Medicine
- Published
- 2024-09-09
- DOI
- https://doi.org/10.1186/s13073-024-01381-w
- Citations
- 19
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 4.44
Funders
- National Institute for Health and Care Research