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

Journal Contribution ResearchOnline@JCU
Gale, Daniel P.;Mallett, Andrew;Patel, Chirag;Sneddon, Tam P.;Rehm, Heidi L.;Sampson, Matthew G.;Bockenhauer, Detlef
Andrew Mallett
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.

Journal

Nature Reviews Nephrology

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Volume

16

ISBN/ISSN

1759-507X

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Pages Count

3

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Publisher

Nature Publishing Group

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DOI

10.1038/s41581-020-0277-6