Shaffer co-authors Nature Genetics paper: Shared Heritability of Human Face and Brain Shape


HUGEN's John R. Shaffer (HUGEN '08) and Dental Medicine's Seth M. Weinberg co-authored a paper Evidence from model organisms and clinical genetics suggests coordination between the developing brain and face, but the role of this link in common genetic variation remains unknown. 

They adapted previously published data-driven phenotyping approach to brain shape, as measured by MRI scans of 19,644 individuals in the UKB. Participants included were of primarily European ancestry, such that results do not pertain to cross-population differences in brain shape. They focused on the mid-cortical surface, referred to as brain shape.

Using mid-cortical surfaces represented by a mesh of three-dimensional vertices, the method segments brain shape in a global-to-local manner, yielding brain segments at different hierarchical levels of scale. Within each segment, principal-component analysis (PCA) is used to describe effects in multivariate shape space explaining between-individual variation, and canonical correlation analysis (CCA) is used to define, for each variant, the linear combination of principal components (PCs) maximally associated with SNP dosage.

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