Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies

Hoskens, Hanne, Liu, Dongjing, Naqvi, Sahin, Keun Lee, Myoung, Eller, Ryan J, Indencleef, Karlijne, White, Julie D, Li, Jiarui, Larmuseau, Maarten H D, Hens, Greet, Wysocka, Joanna, Walsh, Susan, Richmond, Stephen ORCID:, Shriver, Mark D, Shaffer, John R, Peeters, Hilde, Weinberg, Seth M and Claes, Peter 2021. 3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies. PLoS Genetics 17 (5) , e1009528. 10.1371/journal.pgen.1009528

[thumbnail of journal.pgen.1009528.pdf] PDF - Published Version
Available under License Creative Commons Attribution.

Download (1MB)


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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Dentistry
Additional Information: This is an open access article distributed under the terms of the Creative Commons Attribution License
Publisher: Public Library of Science
ISSN: 1553-7390
Date of First Compliant Deposit: 12 July 2021
Date of Acceptance: 1 April 2021
Last Modified: 14 May 2023 22:20

Citation Data

Cited 4 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item Edit Item


Downloads per month over past year

View more statistics