Blood RNA-seq in rare disease diagnostics: a comparative study of cases with and without candidate variants
Blood RNA-seq is highly effective in refining the interpretation of splicing VUS, frequently leading to reclassification and diagnosis. Meanwhile, RNA-driven identification of causal variants shows a more modest yield in cases without prior candidates. This study supports an RNA-complementary approach as the preferred strategy for clinical utility.
Authors
- Lili Liang (ORCID: https://orcid.org/0000-0002-7610-9825)
- Yongguo Yu (ORCID: https://orcid.org/0000-0002-4472-0910)
- Xiaomei Luo (ORCID: https://orcid.org/0000-0003-1524-2574)
- Kaichuang Zhang
- Yanjie Fan (ORCID: https://orcid.org/0000-0001-7006-733X)
- Ting Xu (ORCID: https://orcid.org/0000-0002-1381-1609)
- Huili Liu (ORCID: https://orcid.org/0000-0002-5535-5015)
- Bing Xiao (ORCID: https://orcid.org/0000-0002-3736-6714)
- Yi Liu (ORCID: https://orcid.org/0009-0007-8292-3296)
Institutions
- XinHua Hospital (CN)
Publication Details
- Journal
- Journal of Translational Medicine
- Published
- 2025-05-26
- DOI
- https://doi.org/10.1186/s12967-025-06609-w
- Citations
- 7
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 12.72
Funders
- National Natural Science Foundation of China
- Science and Technology Commission of Shanghai Municipality