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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| Main Authors: | , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2021-05-01
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| Series: | PLoS Genetics |
| Online Access: | https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1009528&type=printable |
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| author | Hanne Hoskens Dongjing Liu Sahin Naqvi Myoung Keun Lee Ryan J Eller Karlijne Indencleef Julie D White Jiarui Li Maarten H D Larmuseau Greet Hens Joanna Wysocka Susan Walsh Stephen Richmond Mark D Shriver John R Shaffer Hilde Peeters Seth M Weinberg Peter Claes |
| author_facet | Hanne Hoskens Dongjing Liu Sahin Naqvi Myoung Keun Lee Ryan J Eller Karlijne Indencleef Julie D White Jiarui Li Maarten H D Larmuseau Greet Hens Joanna Wysocka Susan Walsh Stephen Richmond Mark D Shriver John R Shaffer Hilde Peeters Seth M Weinberg Peter Claes |
| author_sort | Hanne Hoskens |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-14d3807022064bf8acadeccc7dc4dd49 |
| institution | OA Journals |
| issn | 1553-7390 1553-7404 |
| language | English |
| publishDate | 2021-05-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS Genetics |
| spelling | doaj-art-14d3807022064bf8acadeccc7dc4dd492025-08-20T02:23:18ZengPublic Library of Science (PLoS)PLoS Genetics1553-73901553-74042021-05-01175e100952810.1371/journal.pgen.10095283D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies.Hanne HoskensDongjing LiuSahin NaqviMyoung Keun LeeRyan J EllerKarlijne IndencleefJulie D WhiteJiarui LiMaarten H D LarmuseauGreet HensJoanna WysockaSusan WalshStephen RichmondMark D ShriverJohn R ShafferHilde PeetersSeth M WeinbergPeter ClaesThe 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.https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1009528&type=printable |
| spellingShingle | Hanne Hoskens Dongjing Liu Sahin Naqvi Myoung Keun Lee Ryan J Eller Karlijne Indencleef Julie D White Jiarui Li Maarten H D Larmuseau Greet Hens Joanna Wysocka Susan Walsh Stephen Richmond Mark D Shriver John R Shaffer Hilde Peeters Seth M Weinberg Peter Claes 3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies. PLoS Genetics |
| title | 3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies. |
| title_full | 3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies. |
| title_fullStr | 3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies. |
| title_full_unstemmed | 3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies. |
| title_short | 3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies. |
| title_sort | 3d facial phenotyping by biometric sibling matching used in contemporary genomic methodologies |
| url | https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1009528&type=printable |
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