Key differences exist between clinical and research genomics. As genomic testing is adopted in nephrology clinical care, we propose focusing on clinical genomics approaches to obtain genetic diagnoses in order to ensure optimal use of resources and maximum patient benefit.
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Clinical Laboratory Improvement Amendments (CLIA): https://www.cms.gov/regulations-and-guidance/legislation/clia
Human Phenotype Ontology (HPO): https://hpo.jax.org/app/
International Organization for Standardization (ISO): https://www.iso.org/standards.html/
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Mallett, A.J., Knoers, N., Sayer, J. et al. Clinical versus research genomics in kidney disease. Nat Rev Nephrol 17, 570–571 (2021). https://doi.org/10.1038/s41581-021-00436-0
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DOI: https://doi.org/10.1038/s41581-021-00436-0
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