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# Whole-genome sequencing gave a genetic diagnosis in 4.9% of kidney anomaly cases
- URL: https://www.coios.me/whole-genome-sequencing-gave-a-genetic-diagnosis-in-4-9-of/
- Published: 2026-09-23T12:45:04.000Z
- Updated: 2026-09-23T21:35:18.000Z
- Description: Whole-genome sequencing of 1,052 people with congenital anomalies of the kidney and urinary tract in the UK 100,000 Genomes Project gave a single-gene diagnosis in 4.9%, with common and low-frequency variants estimated to explain 23% of phenotypic variance.
- Author: Daniel Ryan
- Tags: Power of data, The sources behind the numbers, Biotechnology against inherited risk and ageing, United Kingdom, #peer-reviewed, #refines, #item, #source-2026-09

Researchers applied whole-genome sequencing to 1,052 unrelated people with congenital anomalies of the kidneys and urinary tract recruited to the UK's 100,000 Genomes Project, testing panel-based diagnostic yield alongside rare-variant and genome-wide association analyses. The single-gene diagnostic yield was 4.9%, rising to 11.1% in cystic kidney dysplasia, with family history, consanguinity and features outside the kidney each predicting a single-gene cause. Common and low-frequency variants were estimated to account for 23% of phenotypic variance (95% CI 1-45%), and a polygenic score for posterior urethral valves was validated in an independent cohort.

*Why it is interesting: A national sequencing programme puts a low figure on what single-gene testing returns in a condition long treated as largely Mendelian.*

Source

[Kidney International, 21 September 2026](https://doi.org/10.1016/j.kint.2026.07.037?ref=coios.me)

DOI

10.1016/j.kint.2026.07.037

Type

Peer-reviewed article

Design

Whole-genome sequencing case-control analysis, 1,052 CAKUT patients in the UK 100,000 Genomes Project, with 813 cases against 25,205 ancestry-matched controls and external validation in 77 cases and 2,746 controls

Verdict

Refines prior evidence

Driver

[The sources behind the numbers](https://www.coios.me/d-data-sources/)

Driver

[Biotechnology against inherited risk and ageing](https://www.coios.me/d-biotechnology/)