Chapter 13

13From Variant to Mechanism

Draft pending — this page is an outline of planned content. Write it by creating content/variant-to-mechanism.md.

13.1The problem: from association to cause

Planned: Turning a genetic signal into a mechanism, across the allele frequency spectrum.

13.2Models that attempt it

Planned: In-silico variant scoring feeding fine-mapping and colocalization; missense and noncoding effect predictors.

13.3What they do well and what is still hard

Planned: Noncoding effects; cohort confounding; the running example of aging-related disease.