Heritability maps of human face morphology through large-scale automated three-dimensional phenotyping

The human face is a complex trait under strong genetic control, as evidenced by the striking visual similarity between twins. Nevertheless, heritability estimates of facial traits have often been surprisingly low or difficult to replicate. Furthermore, the construction of facial phenotypes that correspond to naturally perceived facial features remains largely a mystery. We present here a large-scale heritability study of face geometry that aims to address these issues. High-resolution, three-dimensional facial models have been acquired on a cohort of 952 twins recruited from the TwinsUK registry, and processed through a novel landmarking workflow, GESSA (Geodesic Ensemble Surface Sampling Algorithm). The algorithm places thousands of landmarks throughout the facial surface and automatically establishes point-wise correspondence across faces. These landmarks enabled us to intuitively characterize facial geometry at a fine level of detail through curvature measurements, yielding accurate heritability maps of the human face (www.heritabilitymaps.info)

Nonparametric Multi-shape Modeling with Uncertainty Quantification

The modeling and uncertainty quantification of closed curves is an important problem in the field of shape analysis, and can have significant ramifications for subsequent statistical tasks. Many of these tasks involve collections of closed curves, which often exhibit structural similarities at multiple levels. Modeling multiple closed curves in a way that efficiently incorporates such between-curve dependence remains a challenging problem. In this work, we propose and investigate a multiple-output (a.k.a. multi-output), multi-dimensional Gaussian process modeling framework. We illustrate the proposed methodological advances, and demonstrate the utility of meaningful uncertainty quantification, on several curve and shape-related tasks. This model-based approach not only addresses the problem of inference on closed curves (and their shapes) with kernel constructions, but also opens doors to nonparametric modeling of multi-level dependence for functional objects in general.Comment: 66 pages, 20 figure

A quantitative assessment of 3D facial key point localization fitting 2D shape models to curvature information

This work addresses the localization of 11 prominent facial landmarks in 3D by fitting state of the art shape models to 2D data. Quantitative results are provided for 34 scans at high resolution (texture maps of 10 M-pixels) in terms of accuracy (with respect to manual measurements) and precision (repeatability on different images from the same individual). We obtain an average accuracy of approximately 3 mm, and median repeatability of inter-landmark distances typically below 2 mm, which are values comparable to current algorithms on automatic localization of facial landmarks. We also show that, in our experiments, the replacement of texture information by curvature features produced little change in performance, which is an important finding as it suggests the applicability of the method to any type of 3D data

Three Dimensional Nonlinear Statistical Modeling Framework for Morphological Analysis

This dissertation describes a novel three-dimensional (3D) morphometric analysis framework for building statistical shape models and identifying shape differences between populations. This research generalizes the use of anatomical atlases on more complex anatomy as in case of irregular, flat bones, and bones with deformity and irregular bone growth. The foundations for this framework are: 1) Anatomical atlases which allow the creation of homologues anatomical models across populations; 2) Statistical representation for output models in a compact form to capture both local and global shape variation across populations; 3) Shape Analysis using automated 3D landmarking and surface matching. The proposed framework has various applications in clinical, forensic and physical anthropology fields. Extensive research has been published in peer-reviewed image processing, forensic anthropology, physical anthropology, biomedical engineering, and clinical orthopedics conferences and journals. The forthcoming discussion of existing methods for morphometric analysis, including manual and semi-automatic methods, addresses the need for automation of morphometric analysis and statistical atlases. Explanations of these existing methods for the construction of statistical shape models, including benefits and limitations of each method, provide evidence of the necessity for such a novel algorithm. A novel approach was taken to achieve accurate point correspondence in case of irregular and deformed anatomy. This was achieved using a scale space approach to detect prominent scale invariant features. These features were then matched and registered using a novel multi-scale method, utilizing both coordinate data as well as shape descriptors, followed by an overall surface deformation using a new constrained free-form deformation. Applications of output statistical atlases are discussed, including forensic applications for the skull sexing, as well as physical anthropology applications, such as asymmetry in clavicles. Clinical applications in pelvis reconstruction and studying of lumbar kinematics and studying thickness of bone and soft tissue are also discussed