2024
Mapping genes for human face shape: Exploration of univariate phenotyping strategies.
Yuan M, Goovaerts S, Vanneste M, Matthews H, Hoskens H, Richmond S, Klein O, Spritz R, Hallgrimsson B, Walsh S, Shriver M, Shaffer J, Weinberg S, Peeters H, Claes P. Mapping genes for human face shape: Exploration of univariate phenotyping strategies. PLOS Computational Biology 2024, 20: e1012617. PMID: 39621772, DOI: 10.1371/journal.pcbi.1012617.Peer-Reviewed Original ResearchGenome-wide association studiesMultiple genome-wide association studiesPhenotyping strategiesSNP-based heritabilityInter-landmark distancesLD score regressionFacial gestaltMap genesGenetic lociAssociation studiesCraniofacial shapeUnivariate traitsMorphological traitsEuropean ancestryScore regressionLow heritabilityPhenotyping approachFacial resemblanceFacial shapePhenotypeGenetic factorsTraitsHuman face shapeHeritabilityGenetic influencesA common cis-regulatory variant impacts normal-range and disease-associated human facial shape through regulation of PKDCC during chondrogenesis
Mohammed J, Arora N, Matthews H, Hansen K, Bader M, Walsh S, Shaffer J, Weinberg S, Swigut T, Claes P, Selleri L, Wysocka J. A common cis-regulatory variant impacts normal-range and disease-associated human facial shape through regulation of PKDCC during chondrogenesis. ELife 2024, 13: e82564. PMID: 38483448, PMCID: PMC10939500, DOI: 10.7554/elife.82564.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesSingle nucleotide polymorphismsGenome-wide association study studiesDisease predispositionComplex morphological traitsEmbryonic cell typesSkull elementsCognate enhancersAssociation studiesAssociated with quantitative changesPhenotypic traitsPhenotypic variationMorphological traitsJaw shapeNucleotide polymorphismsGenetic variantsMorphological variationTyrosine kinaseCell typesNormal rangeRisk of non-syndromic orofacial cleftsFacial morphogenesisNon-syndromic orofacial cleftsHuman populationSkeletal development
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