Diagnoses of uncertain significance: kidney genetics in the 21st century.,Nature Reviews Nephrology

当前位置： X-MOL 学术 › Nat. Rev. Nephrol. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

Diagnoses of uncertain significance: kidney genetics in the 21st century.
Nature Reviews Nephrology ( IF 28.6 ) Pub Date : 2020-04-07 , DOI: 10.1038/s41581-020-0277-6
Daniel P Gale ₁ , Andrew Mallett _{2,

3,

4} , Chirag Patel _{2,

5} , Tam P Sneddon ₆ , Heidi L Rehm _{7,

8,

9} , Matthew G Sampson _{8,

9,

10} , Detlef Bockenhauer _{1,

11}

Affiliation

Department of Renal Medicine, University College London, London, UK.
KidGen Collaborative, Australian Genomics Health Alliance, Parkville, Victoria, Australia.
Department of Renal Medicine, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
Institute for Molecular Bioscience and Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.
Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC, USA.
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Harvard Medical School, Boston, MA, USA.
Division of Nephrology, Boston Children's Hospital, Boston, MA, USA.
Renal Unit, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.

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.

中文翻译：