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Diagnoses of uncertain significance: kidney genetics in the 21st century

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From Nature Reviews Nephrology

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The increasing availability of sequencing has accelerated the discovery of genetic causes of kidney disease, with clear benefits for patients. However, insufficient or contradictory evidence exists for numerous variants that were previously reported to be pathogenic, calling into question some proposed gene–disease associations. Rigorous re-appraisal of evidence is needed to ensure diagnostic accuracy.

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Authors and Affiliations

  1. Department of Renal Medicine, University College London, London, UK

    Daniel P. Gale & Detlef Bockenhauer

  2. KidGen Collaborative, Australian Genomics Health Alliance, Parkville, Victoria, Australia

    Andrew Mallett & Chirag Patel

  3. Department of Renal Medicine, Royal Brisbane and Women’s Hospital, Brisbane, Queensland, Australia

    Andrew Mallett

  4. Institute for Molecular Bioscience and Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia

    Andrew Mallett

  5. Genetic Health Queensland, Royal Brisbane and Women’s Hospital, Brisbane, Queensland, Australia

    Chirag Patel

  6. Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC, USA

    Tam P. Sneddon

  7. Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA

    Heidi L. Rehm

  8. Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA

    Heidi L. Rehm & Matthew G. Sampson

  9. Harvard Medical School, Boston, MA, USA

    Heidi L. Rehm & Matthew G. Sampson

  10. Division of Nephrology, Boston Children’s Hospital, Boston, MA, USA

    Matthew G. Sampson

  11. Renal Unit, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK

    Detlef Bockenhauer

Authors
  1. Daniel P. Gale
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  2. Andrew Mallett
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  3. Chirag Patel
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  4. Tam P. Sneddon
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  5. Heidi L. Rehm
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  6. Matthew G. Sampson
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  7. Detlef Bockenhauer
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Corresponding authors

Correspondence to Matthew G. Sampson or Detlef Bockenhauer.

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The authors declare no competing interests.

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RELATED LINKS

Clinical Genome Resource: https://clinicalgenome.org

gnomAD: https://gnomad.broadinstitute.org

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Gale, D.P., Mallett, A., Patel, C. et al. Diagnoses of uncertain significance: kidney genetics in the 21st century. Nat Rev Nephrol 16, 616–618 (2020). https://doi.org/10.1038/s41581-020-0277-6

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  • DOI: https://doi.org/10.1038/s41581-020-0277-6

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