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

Gale, D; Mallett, A; Patel, C; Sneddon, TP; Rehm, HL; Sampson, MG; Bockenhauer, D; (2020) Diagnoses of uncertain significance: kidney genetics in the 21st century. Nature Reviews Nephrology , 16 pp. 616-618. 10.1038/s41581-020-0277-6. Green open access

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Abstract

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.

Type: Article
Title: Diagnoses of uncertain significance: kidney genetics in the 21st century
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/s41581-020-0277-6
Publisher version: https://doi.org/10.1038/s41581-020-0277-6
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Diagnostic markers, Kidney diseases, Molecular medicine
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Renal Medicine
URI: https://discovery.ucl.ac.uk/id/eprint/10094279
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