How a Paper Argues from a Statistical Hit to a Candidate Mechanism
The reusable shape of the whole sub-domain: locus, credible set, cross-population narrowing, expression signal in a named tissue, colocalisation, known biology of the encoded protein, downstream traits that share material with the trait of interest. Each link is an association; the chain is an argument. Students should be able to name which link is weakest.
Questions this Concept answers
- Why is the chain running from a flagged position to a named mechanism an argument rather than a demonstration?
Integrating eQTL Analysis with GWAS: From Locus to Mechanism
A GWAS hit marks a region in linkage disequilibrium, not a gene or a mechanism. The page explains how eQTL analysis bridges that gap: cis-eQTLs link variants to expression of nearby genes in a define…