Missing in Plain Sight No More? Copy Number Variation in Monogenic Kidney Disease
Jefferis, Julia, and Mallett, Andrew J. (2024) Missing in Plain Sight No More? Copy Number Variation in Monogenic Kidney Disease. Kidney International Reports, 9 (10). pp. 2851-2853.
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Abstract
Recent findings from Claus et al.1 have illuminated, at scale, the contribution that copy number variants (CNVs) make to monogenic forms of kidney disease. Whereas previous reports have predominantly focused on the diagnostic yield of genomic sequencing in terms of single nucleotide variants,2,3 this report demonstrates that approximately 3% of all patients undergoing diagnostic genomic testing for suspected monogenic kidney disease harbor a CNV contributing to diagnostic yield. Alternatively, this can be viewed through the lens that 1 in every 10 genetic diagnoses reported were attributable to a CNV. This information is critical for the design, update, and implementation of contemporary diagnostic genomic sequencing approaches for monogenic kidney disease.
| Item ID: | 87186 |
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| Item Type: | Article (Commentary) |
| ISSN: | 2468-0249 |
| Copyright Information: | © 2024 International Society of Nephrology. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/ by-nc-nd/4.0/). |
| Date Deposited: | 17 Nov 2025 04:39 |
| FoR Codes: | 32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320214 Nephrology and urology @ 100% |
| SEO Codes: | 20 HEALTH > 2001 Clinical health > 200105 Treatment of human diseases and conditions @ 100% |
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