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Article

Impact of low-frequency coding variants on human facial shape.

Scientific reports - 12 Jan 2021

Liu Dongjing, Alhazmi Nora, Matthews Harold, Lee Myoung Keun, Li Jiarui, Hecht Jacqueline T, Wehby George L, Moreno Lina M, Heike Carrie L, Roosenboom Jasmien, Feingold Eleanor, Marazita Mary L, Claes Peter, Liao Eric C, Weinberg Seth M, Shaffer John R

Abstract excerpt

The contribution of low-frequency variants to the genetic architecture of normal-range facial traits is unknown. We studied the influence of low-frequency coding variants (MAF < 1%) in 8091 genes on multi-dimensional facial shape phenotypes in a European cohort of 2329 healthy individuals. Using three-dimensional images, we partitioned the full face into 31 hierarchically arranged segments to model facial...

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Identifiers

PMID: 33436952
DOI: 10.1038/s41598-020-80661-y
PMCID: PMC7804299

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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