Fig 1.
Workflow of the study.
Fig 2.
Global-to-local matching of siblings.
(A) Global-to-local segmentation of 3D facial shape obtained using hierarchical spectral clustering of the EURO cohort. Segments are colored per quadrant, represented by the roman numerals. (B) Phenotypically similar sibling pairs were identified in a biometric identification setup, which involves the comparison of facial shape between siblings and with unrelated individuals. Matching performance using different similarity measures and facial features was evaluated using cumulative match characteristic (CMC) curves. Plotted is the percentage of sibling pairs that were correctly identified (y-axis) within the top-k% matches (x-axis) using the Mahalanobis angle. Curves are colored based on the facial features that were used to match siblings. For each quadrant, the highest and lowest identification rates per rank are shown, with the area between the two shaded.
Fig 3.
Genetic loci associated with the sib-shared traits.
(A) Number of sib-shared traits extracted per facial segment, corresponding to the number of sibling pairs that matched close to perfect within a given segment using the Mahalanobis angle. A total of 1,048 traits were extracted across all 63 segments, comprising 322 independent traits. The structure of the rosette plot corresponds to the polar dendrogram displaying the facial segments in Fig 2A. (B) Ideogram of the genetic loci that contribute to variation in the sib-shared traits, as identified by the association analysis of genome-wide common variants, depicted by circles and squares (i.e. overlapping and novel loci, respectively), and exome-wide low-frequency variants, depicted by triangles. For each locus, the color of the symbol represents the quadrant in which the top associated effect (i.e. lowest p-value) was observed.
Fig 4.
Preferential activity in CNCCs and embryonic craniofacial tissues.
Boxplots of the distribution of H3K27ac ChIP-seq signals in 20 kb regions around the 218 genome-wide significant lead SNPs in various adult, embryonic and in vitro–derived cell types. Samples corresponding to CNCCs (blue), embryonic craniofacial tissue (orange) and surface ectoderm (green) are highlighted.