Mechanistic relationship between volumetric and surface-derived genetic signals

Characterize the mechanistic relationship between genetic signals derived from volumetric brain MRI phenotypes and those derived from cortical surface or shape representations through formal colocalization and fine-mapping analyses.

Background

The paper explains that volumetric and surface-derived brain phenotypes identify partially overlapping but substantially distinct genetic loci. Existing comparisons primarily rely on catalog-based overlap counts after covariate adjustment, which indicate complementarity but do not establish whether the underlying associations share causal variants or biological mechanisms. Formal colocalization and fine-mapping analyses are therefore needed to determine how the two signal sources are related mechanistically.

References

Most comparisons to date, however, rest on catalog-based overlap counts after covariate adjustment and stop short of formal colocalization or fine-mapping, so the mechanistic relationship between the two signal sources remains incompletely resolved.

— Surface-volume self-supervised representation learning of brain MRI for genetic discovery  (2610.02114 - Xia et al., 1 Oct 2026) in Section 1, Introduction