GWAS - bhym/wiki GitHub Wiki

GWAS, genome-wide association studies, observational study of a genome-wide set of genetic variants to see if any variant is associated with a trait usually fosing on associations between SNPs and major diesases chacacterise partecipants based on their clinical manifetations use SNP arrays to quantify allele variants if one variant is more frequent in diseased people, the variant is said to be associated with the disease non-candidate driven: identify correlation, but not causation

the vast majority of significant SNPs are located in non-coding regions trait-associated SNPS have been found to be enriched for expression quantitative trait loci (eQTL)

ODDS ratio in GWAS case-control setup: odds of pathology and mutation (case) vs odds of pathology and NOT mutation (control)

T/case T/ control A B C/case C/control X Y

(A/B)/(X/Y)

classical 5E-8