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FaceBase research featured in facial genetics publication on Nature Genetics | FaceBase

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FaceBase research featured in facial genetics publication on Nature Genetics

Published 09 December 2020

Various FaceBase researchers have published a new paper on Nature Genetics titled “Insights into the genetic architecture of the human face”:

Abstract: The human face is complex and multipartite, and characterization of its genetic architecture remains challenging. Using a multivariate genome-wide association study meta-analysis of 8,246 European individuals, we identified 203 genome-wide-significant signals (120 also study-wide significant) associated with normal-range facial variation. Follow-up analyses indicate that the regions surrounding these signals are enriched for enhancer activity in cranial neural crest cells and craniofacial tissues, several regions harbor multiple signals with associations to different facial phenotypes, and there is evidence for potential coordinated actions of variants. In summary, our analyses provide insights into the understanding of how complex morphological traits are shaped by both individual and coordinated genetic actions.

Also see an accompanying piece that John Shaffer and Seth Weinberg, (Center for Craniofacial and Dental Genetics, University of Pittsburgh), wrote for The Conversation:

This study was funded by the NIDCR. The raw source data for the phenotypes — the 3D facial surface models in .obj format — are available through the 3D Facial Norms database at the FaceBase Consortium:

Access to these 3D facial surface models requires proper institutional ethics approval and approval from the FaceBase Data Access Committee (DAC). To gain access to this data, you must first go through the process outlined here.