Article

Whole-genome sequencing reveals contribution of rare and common variation to structural kidney and urinary tract malformations

2024-10-11

Abstract excerpt

<h4>Introduction</h4> Congenital anomalies of the kidneys and urinary tract (CAKUT) are the commonest cause of kidney failure in children and young adults. Over 50 monogenic causes have been identified, however less than 20% of patients have a genetic diagnosis identified using targeted or whole exome sequencing. We sought to characterise the genomic architecture of CAKUT using whole genome sequencing (WGS). <h4>...

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Literature Corpus work: e77a6911-001d-59e4-abc5-f3398182b4d8
DOI: 10.1101/2024.10.10.24315242

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