Quantifying variant contributions in cystic kidney disease using national-scale whole-genome sequencing
Journal of Clinical Investigation - Cardiology
OCTOBER 1, 2024
BACKGROUND Cystic kidney disease (CyKD) is a predominantly familial disease in which gene discovery has been led by family-based and candidate gene studies, an approach that is susceptible to ascertainment and other biases.METHODS Using whole-genome sequencing data from 1,209 cases and 26,096 ancestry-matched controls participating in the 100,000 Genomes Project, we adopted hypothesis-free approaches to generate quantitative estimates of disease risk for each genetic contributor to CyKD, across
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