Article
Derivation and validation of genome-wide polygenic score for urinary tract stone diagnosis.
Kidney international - 1 Nov 2020
Paranjpe Ishan, Tsao Noah, Judy Renae, Paranjpe Manish, Chaudhary Kumardeep, Klarin Derek, Forrest Iain, O'Hagan Ross, Kapoor Arjun, Pfail John, Jaladanki Suraj, Chaudhry Fayzan, Vaid Akhil, Duy Phan Q, He John Cijiang, Glicksberg Benjamin S, Coca Steven G, Gupta Mantu, Do Ron, Damrauer Scott M, Nadkarni Girish N
Abstract excerpt
Urinary tract stones have high heritability indicating a strong genetic component. However, genome-wide association studies (GWAS) have uncovered only a few genome wide significant single nucleotide polymorphisms (SNPs). Polygenic risk scores (PRS) sum cumulative effect of many SNPs and shed light on underlying genetic architecture. Using GWAS summary statistics from 361,141 participants in the United Kingdom...
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