Diagnoses of uncertain significance: kidney genetics in the 21st century
Gale, Daniel P., Mallett, Andrew, Patel, Chirag, Sneddon, Tam P., Rehm, Heidi L., Sampson, Matthew G., and Bockenhauer, Detlef (2020) Diagnoses of uncertain significance: kidney genetics in the 21st century. Nature Reviews Nephrology, 16. pp. 616-618.
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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.
| Item ID: | 67862 |
|---|---|
| Item Type: | Article (Commentary) |
| ISSN: | 1759-507X |
| Date Deposited: | 04 Jul 2022 22:30 |
| FoR Codes: | 32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320299 Clinical sciences not elsewhere classified @ 20% 32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320214 Nephrology and urology @ 50% 32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320213 Medical genetics (excl. cancer genetics) @ 30% |
| SEO Codes: | 20 HEALTH > 2001 Clinical health > 200105 Treatment of human diseases and conditions @ 20% 20 HEALTH > 2001 Clinical health > 200101 Diagnosis of human diseases and conditions @ 80% |
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