P645: Reflex RNA sequencing for enhanced variant classification on ES/GS improves patient outcomes
Splice variants represent a significant portion of variants of uncertain significance (VUS) in clinical exome and genome sequencing (ES/GS). However, it is challenging to confirm the impact of these variants by DNA analysis alone due to a lack of functional evidence in RNA splicing. This especially impacts patients with rare disease, where novel variants are more likely to be classified as VUS. To address this concern, we integrated clinically validated RNA sequencing (RNAseq) into the ES/GS clinical workflow as a reflex test to enhance classification of variants with potential impact on splicing.
Authors
- Robert Rigobello (ORCID: https://orcid.org/0009-0009-2505-9694)
- Linyan Meng (ORCID: https://orcid.org/0000-0001-7474-9178)
- Fan Xia (ORCID: https://orcid.org/0000-0002-4974-9851)
- Mei Ling Chong (ORCID: https://orcid.org/0009-0009-9859-3505)
- Susanna K. P. Lau (ORCID: https://orcid.org/0000-0002-1383-7374)
- Hongzheng Dai (ORCID: https://orcid.org/0000-0002-0103-876X)
- Xiaonan Zhao (ORCID: https://orcid.org/0000-0001-9941-8930)
- Wilson CW. Wu
- Christine M. Eng (ORCID: https://orcid.org/0009-0008-8627-8228)
Institutions
- Baylor College of Medicine (US)
- Baylor Genetics (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103014
- Primary Topic
- Biomedical Ethics and Regulation
- Type
- article
- Field-Weighted Citation Impact
- 0.00