Article

Quantifying variant contributions in cystic kidney disease using national-scale whole genome sequencing

2024-02-15

Abstract excerpt

<h4>Introduction: </h4> Cystic kidney disease (CyKD) is frequently a familial disease, with ~85% of probands receiving a monogenic diagnosis. However, gene discovery has been led by family-based and candidate gene studies, limiting the ascertainment of non-Mendelian genetic contributors to the disease. Using whole genome sequencing data provided by the 100,000 Genomes Project (100KGP), we used hypothesis-free appr...

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Literature Corpus work: 1e73867c-5564-5851-b633-b8275edfc5f3
DOI: 10.1101/2024.02.14.24302377

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