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3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies

NCJ Number
Date Published
January 2022

This article reports on a data-driven, family-informed strategy for facial phenotyping that searches for biologically relevant traits and reduces multivariate 3D facial shape variability into amendable univariate measurements, while preserving its structurally complex nature.



The project performed a biometric identification of siblings in a sample of 424 children, defining 1,048 sib-shared facial traits. Subsequent quantification and analyses in an independent European cohort (n = 8,246) demonstrated significant heritability for a subset of traits (0.17–0.53) and highlighted 218 genome-wide significant loci (38 also study-wide) associated with facial variation shared by siblings. These loci showed preferential enrichment for active chromatin marks in cranial neural crest cells and embryonic craniofacial tissues and several regions harbor putative craniofacial genes, thereby enhancing  knowledge on the genetic architecture of normal-range facial variation. (publisher abstract modified)

Date Published: January 27, 2022