Insights into the genetic architecture of the human face.
Ontology highlight
ABSTRACT:
SUBMITTER: White JD
PROVIDER: S-EPMC7796995 | biostudies-literature | 2021 Jan
REPOSITORIES: biostudies-literature
Publications
Insights into the genetic architecture of the human face.
White Julie D JD Indencleef Karlijne K Naqvi Sahin S Eller Ryan J RJ Hoskens Hanne H Roosenboom Jasmien J Lee Myoung Keun MK Li Jiarui J Mohammed Jaaved J Richmond Stephen S Quillen Ellen E EE Norton Heather L HL Feingold Eleanor E Swigut Tomek T Marazita Mary L ML Peeters Hilde H Hens Greet G Shaffer John R JR Wysocka Joanna J Walsh Susan S Weinberg Seth M SM Shriver Mark D MD Claes Peter P
Nature genetics 20201207 1
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 tissue ...[more]
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