Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification
Genomic analysis revealed considerable heterogeneity of the described phenotypes in terms of mode of inheritance, affected genes, and variant type. We propose, for the first time in veterinary medicine, a nosology of genetic skeletal disorders in ruminants that may be useful for more precise differential clinicopathological diagnosis. We emphasize the potential of WGS to enhance genetic disease diagnosis and the importance of adopting a nosology for disease categorization.
Authors
- C.M. Lindgren
- Markus Freick (ORCID: https://orcid.org/0000-0003-2695-8316)
- Cord Drögemüller (ORCID: https://orcid.org/0000-0001-9773-522X)
- Anna Letko (ORCID: https://orcid.org/0000-0002-6521-1285)
- Arcangelo Gentile (ORCID: https://orcid.org/0000-0002-6091-8978)
- David Christian Evar Kraft (ORCID: https://orcid.org/0000-0002-2973-7546)
- Marlene Sickinger (ORCID: https://orcid.org/0000-0002-2231-1622)
- Irene M. Häfliger (ORCID: https://orcid.org/0000-0002-5648-963X)
- S. F. E. Scholes (ORCID: https://orcid.org/0000-0003-3422-5956)
- Joana G. P. Jacinto (ORCID: https://orcid.org/0000-0002-6438-7975)
- T. Floyd
- Rachael Collins
- Cinzia Benazzi (ORCID: https://orcid.org/0000-0003-1726-0442)
- Jože Starič (ORCID: https://orcid.org/0000-0002-5156-5277)
- Harriet Fuller
- Sara Soto (ORCID: https://orcid.org/0000-0003-3777-8724)
- Imke Tammen (ORCID: https://orcid.org/0000-0002-5520-6597)
- Gesine Lühken (ORCID: https://orcid.org/0000-0002-2032-0840)
- Alwyn Jones
- Moyna Richey
- Marilena Bolcato (ORCID: https://orcid.org/0000-0002-0605-3344)
- Brendon A. O’Rourke (ORCID: https://orcid.org/0000-0001-6959-9398)
- Jørgen Steen Agerholm (ORCID: https://orcid.org/0000-0003-1653-4552)
- Alessia Diana (ORCID: https://orcid.org/0000-0003-1709-3920)
- Jim Weber (ORCID: https://orcid.org/0000-0003-4392-5073)
- A. Otter (ORCID: https://orcid.org/0000-0003-3523-1418)
- H. Carty
- Ben Strugnell
- E. Studer (ORCID: https://orcid.org/0009-0001-1500-6865)
Institutions
- University of Bern (CH)
- University of Copenhagen (DK)
- The University of Sydney (AU)
- University of Ljubljana (SI)
- Animal and Plant Health Agency (GB)
- Justus-Liebig-Universität Gießen (DE)
- Aarhus University (DK)
- Bishop Auckland Hospital (GB)
- New South Wales Department of Primary Industries (AU)
- Scottish Health Services (GB)
- Moredun Research Institute (GB)
- Cotton Research and Development Corporation (AU)
- Martin Luther University Halle-Wittenberg (DE)
- University of Bologna (IT)
Publication Details
- Journal
- Genetics Selection Evolution
- Published
- 2025-09-25
- DOI
- https://doi.org/10.1186/s12711-025-01002-z
- Citations
- 1
- Primary Topic
- Genetic and phenotypic traits in livestock
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- Johns Hopkins University
- University of Bern