2024
Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population
Vanneste M, Hoskens H, Goovaerts S, Matthews H, Devine J, Aponte J, Cole J, Shriver M, Marazita M, Weinberg S, Walsh S, Richmond S, Klein O, Spritz R, Peeters H, Hallgrímsson B, Claes P. Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population. Nature Communications 2024, 15: 10458. PMID: 39622794, PMCID: PMC11612227, DOI: 10.1038/s41467-024-54839-1.Peer-Reviewed Original ResearchConceptsMultivariate GWASMendelian phenotypesComplex traitsPolygenic backgroundMendelian disordersPolygenic basisGenetic variationGenetic variantsGenetic intersectionAchondroplasia phenotypePhenotypic spectrumPhenotypeGenesSkeletal developmentShape axesCraniofacial shapeGWASFacial variationsThree-dimensional facial scansGeneral populationTraitsControl scoresVariationControl samplesVariants
2023
Data-driven trait heritability-based extraction of human facial phenotypes
Yuan M, Goovaerts S, Hoskens H, Richmond S, Walsh S, Shriver M, Shaffer J, Marazita M, Weinberg S, Peeters H, Claes P. Data-driven trait heritability-based extraction of human facial phenotypes. 2023, 00: 312-319. DOI: 10.1109/bibm58861.2023.10385885.Peer-Reviewed Original ResearchTrait heritabilityGenome-wide association scanAssociation scansSNP heritabilityGenetic lociAssociation studiesGenetic variationModel shape variationsPhenotypic traitsMorphological traitsEffect traitsRelevant phenotypesDimension reduction techniquesPhenotypic measurementsData-driven optimizationPhenotypic descriptorsFeature spaceHuman expertsGenetic search algorithmPhenotypeAutomatic extractionTraitsHuman faceDegree of variationSearch algorithm