ArticlePLoS genetics2021
3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies.
Article in PLoS genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 32 citations in OpenAlex.
- Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective.Human molecular genetics · 2025Pooled it
- Advancement in Human Face Prediction Using DNA.Genes · 2023Pooled it
- Measuring sexual dimorphism in human faces.Journal of anatomy · 2026Article
- Advancing genotype-phenotype analysis through 3D facial morphometry: insights from Cri-du-Chat syndrome.Journal of medical genetics · 2026Article
- Comparative study of fetal facial shape between Japanese and North American populations using micro-CT.Scientific reports · 2025Article
- Exploring the association between SNPs and facial morphology in a Spanish population.Scientific reports · 2025Article
- Enhanced insights into the genetic architecture of 3D cranial vault shape using pleiotropy-informed GWAS.Communications biology · 2025Article
- Optimized phenotyping of complex morphological traits: enhancing discovery of common and rare genetic variants.Briefings in bioinformatics · 2025Article
- The accuracy of automated facial landmarking - a comparative study between Cliniface software and patch-based Convoluted Neural Network algorithm.European journal of orthodontics · 2025Article
- Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population.Nature communications · 2024Article
- Mapping genes for human face shape: Exploration of univariate phenotyping strategies.PLoS computational biology · 2024Article
- A comprehensive evaluation of the phenotype-first and data-driven approaches in analyzing facial morphological traits.iScience · 2024Article
- Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population.bioRxiv : the preprint server for biology · 2023Article
- The Facial Characteristics of Individuals with Posterior Crossbite: A Cross-Sectional Study.Healthcare (Basel, Switzerland) · 2023Article
- Effect of genetic variants inForensic sciences research · 2023Article
- Decoding the Human Face: Progress and Challenges in Understanding the Genetics of Craniofacial Morphology.Annual review of genomics and human genetics · 2022Review
- Genome scans of facial features in East Africans and cross-population comparisons reveal novel associations.PLoS genetics · 2021Article
- 3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies.PLoS genetics · 2021Article
- Article
Corrections and comments
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Authors and funding
18 authors at 9 institutions in 4 countries.
Funding
Abstract
The analysis of contemporary genomic data typically operates on one-dimensional phenotypic measurements (e.g. standing height). Here we report on a data-driven, family-informed strategy to 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. We 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 our knowledge on the genetic architecture of normal-range facial variation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.