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

• Published in: The Journal of clinical investigation Vol. 134; no. 19; pp. 1 - 14
• Main Authors: Sadeghi-Alavijeh, Omid, Chan, Melanie My, Doctor, Gabriel T, Voinescu, Catalin D, Stuckey, Alexander, Kousathanas, Athanasios, Ho, Alexander T, Stanescu, Horia C, Bockenhauer, Detlef, Sandford, Richard N, Levine, Adam P, Gale, Daniel P
• Format: Journal Article
• Language: English
• Published: United States American Society for Clinical Investigation 01.10.2024
• Subjects: Autoantigens; Case-Control Studies; Clinical Medicine; Collagen Type IV - genetics; Cysts; DNA sequencing; Female; Gene Frequency; Genes; Genetic aspects; Genetic Predisposition to Disease; Genetic testing; Genetic Variation; Genome-wide association studies; Genomes; Genomics; Genotype & phenotype; Heritability; Humans; Kidney diseases; Kidney Diseases, Cystic - genetics; Kidney, Cystic; Male; Medical prognosis; Nucleotide sequencing; Polycystic kidney; Rare diseases; Receptors, Cell Surface; Risk factors; Statistical analysis; Statistics; Survival analysis; Whole Genome Sequencing; United Kingdom; United Kingdom > UK; Genetics; Nephrology; Molecular genetics; Genetic diseases; Bioinformatics

BACKGROUNDCystic 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.METHODSUsing whole-genome sequencing data from 1,209 cases and 26,096 ancestry...