Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger
Using WGS, we identified a genetic cause in 23% of patients with uKF at age 50 or younger, resulting in a combined diagnostic rate of 29%. Most pathogenic variants were detectable by WGS.
Authors
- Bjarne Ørskov
- Maria Rasmussen (ORCID: https://orcid.org/0000-0003-1635-819X)
- Klaus Brusgaard (ORCID: https://orcid.org/0000-0002-2096-4988)
- Dorte Launholt Lildballe (ORCID: https://orcid.org/0000-0003-0223-1673)
- Jeff Granhøj (ORCID: https://orcid.org/0000-0002-7366-8074)
- Henrik Birn (ORCID: https://orcid.org/0000-0003-3715-7266)
- Birgitte Tougaard (ORCID: https://orcid.org/0000-0001-7274-6010)
- Per Svenningsen (ORCID: https://orcid.org/0000-0001-6590-7103)
- Katja Venborg Pedersen
- Mads Malik Aagaard
- Rasmus H Pausgaard
Institutions
- University of Southern Denmark (DK)
- Aarhus University (DK)
- Aarhus University Hospital (DK)
- Zealand University Hospital (DK)
- Lillebaelt Hospital (DK)
Publication Details
- Journal
- Kidney International Reports
- Published
- 2025-09-04
- DOI
- https://doi.org/10.1016/j.ekir.2025.09.001
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Aase og Ejnar Danielsens Fond
- Nyreforeningen
- Augustinus Fonden
- Syddansk Universitet
- Lægeforeningen
- Familien Hede Nielsens Fond
- Sygehus Lillebælt