Clinical use of the VNtyper-Kestrel pipeline for MUC1 variant detection in autosomal-dominant tubulointerstitial kidney disease
VNtyper-Kestrel demonstrated high sensitivity in identifying MUC1 variants when sequencing coverage was adequate, supporting its potential as a rapid and cost-effective screening tool. However, confirmatory long-read sequencing is needed in uncertain cases. Optimizing coverage and refining patient selection criteria could improve the clinical utility of this approach.
Authors
- Hideaki Kitakado (ORCID: https://orcid.org/0000-0001-7763-4675)
- Kandai Nozu (ORCID: https://orcid.org/0000-0002-0290-3137)
- China Nagano (ORCID: https://orcid.org/0000-0003-4946-1345)
- Yuya Aoto (ORCID: https://orcid.org/0000-0002-8106-9039)
- Chika Ueda (ORCID: https://orcid.org/0000-0003-3390-0235)
- Yu Tanaka (ORCID: https://orcid.org/0000-0001-5107-2491)
- Yuta Ichikawa (ORCID: https://orcid.org/0000-0001-5926-1203)
- Yuta Inoki (ORCID: https://orcid.org/0009-0005-8645-5464)
- Nana Sakakibara
- Shingo Ishimori (ORCID: https://orcid.org/0000-0003-3863-2743)
- Tomoko Horinouchi (ORCID: https://orcid.org/0000-0003-1655-6030)
- Naoya Morisada (ORCID: https://orcid.org/0000-0003-2936-6615)
- Tomohiko Yamamura
Institutions
- Kobe Children's Hospital (JP)
- Kobe University (JP)
Publication Details
- Journal
- Clinical and Experimental Nephrology
- Published
- 2025-04-17
- DOI
- https://doi.org/10.1007/s10157-025-02675-y
- Primary Topic
- Renal Diseases and Glomerulopathies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Kobe University
- Japan Society for the Promotion of Science