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Large‐scale objective phenotyping of 3D facial morphology
Author(s) -
Hammond Peter,
Suttie Michael
Publication year - 2012
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22054
Subject(s) - biology , phenotype , documentation , scale (ratio) , computational biology , evolutionary biology , data science , bioinformatics , genetics , computer science , gene , cartography , programming language , geography
Abnormal phenotypes have played significant roles in the discovery of gene function, but organized collection of phenotype data has been overshadowed by developments in sequencing technology. In order to study phenotypes systematically, large‐scale projects with standardized objective assessment across populations are considered necessary. The report of the 2006 Human Variome Project meeting (Cotton et al, 2007) recommended documentation of phenotypes through electronic means by collaborative groups of computational scientists and clinicians using standard, structured descriptions of disease‐specific phenotypes. In this report, we describe progress over the past decade in three‐dimensional (3D) digital imaging and shape analysis of the face, and future prospects for large‐scale facial phenotyping. Illustrative examples are given throughout using a collection of 1,107 3D face images of healthy controls and individuals with a range of genetic conditions involving facial dysmorphism. Hum Mutat 33:817–825, 2012. © 2012 Wiley Periodicals, Inc.