3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies
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 vari...
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| Veröffentlicht in: | PLoS genetics 2021-05, Vol.17 (5), p.e1009528-e1009528 |
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| creator | Hoskens, Hanne Liu, Dongjing Naqvi, Sahin Lee, Myoung Keun Eller, Ryan J Indencleef, Karlijne White, Julie D Li, Jiarui Larmuseau, Maarten H D Hens, Greet Wysocka, Joanna Walsh, Susan Richmond, Stephen Shriver, Mark D Shaffer, John R Peeters, Hilde Weinberg, Seth M Claes, Peter |
| description | 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. |
| doi_str_mv | 10.1371/journal.pgen.1009528 |
| format | Article |
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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. 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| issn | 1553-7404 1553-7390 1553-7404 |
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| source | Public Library of Science (PLoS) Journals Open Access; MEDLINE; DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central |
| subjects | Adolescent Biology and Life Sciences Biometric Identification Biometrics Biometry Child Child, Preschool Craniofacial Abnormalities - genetics Datasets as Topic Europe - ethnology Face - abnormalities Face - anatomy & histology Face - embryology Female Gene loci Genetic Association Studies Genomics Humans Imaging, Three-Dimensional Male Medicine and Health Sciences Methods Multifactorial Inheritance - genetics Nuclear family Observations Phenotype Phenotyping Principal components analysis Quantitative genetics Research and Analysis Methods Siblings Similarity measures White People - genetics |
| title | 3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-11T02%3A00%3A11IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_plos_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=3D%20facial%20phenotyping%20by%20biometric%20sibling%20matching%20used%20in%20contemporary%20genomic%20methodologies&rft.jtitle=PLoS%20genetics&rft.au=Hoskens,%20Hanne&rft.date=2021-05-13&rft.volume=17&rft.issue=5&rft.spage=e1009528&rft.epage=e1009528&rft.pages=e1009528-e1009528&rft.issn=1553-7404&rft.eissn=1553-7404&rft_id=info:doi/10.1371/journal.pgen.1009528&rft_dat=%3Cgale_plos_%3EA663950921%3C/gale_plos_%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2541857403&rft_id=info:pmid/33983923&rft_galeid=A663950921&rft_doaj_id=oai_doaj_org_article_14d3807022064bf8acadeccc7dc4dd49&rfr_iscdi=true |