Many genetic syndromes involve a facial gestalt that suggests a preliminary diagnosis to an experienced clinical geneticist even before a clinical examination and genotyping are undertaken. Previously, using visualization and pattern recognition, we showed that dense surface models (DSMs) of full face shape characterize facial dysmorphology in Noonan and in 22q11 deletion syndromes. In this much larger study of 696 individuals, we extend the use of DSMs of the full face to establish accurate discrimination between controls and individuals with Williams, Smith-Magenis, 22q11 deletion, or Noonan syndromes and between individuals with different syndromes in these groups. However, the full power of the DSM approach is demonstrated by the comparable discriminating abilities of localized facial features, such as periorbital, perinasal, and perioral patches, and the correlation of DSM-based predictions and molecular findings. This study demonstrates the potential of face shape models to assist clinical training through visualization, to support clinical diagnosis of affected individuals through pattern recognition, and to enable the objective comparison of individuals sharing other phenotypic or genotypic properties.
Motivation: A new method that uses support vector machines (SVMs) to predict protein secondary structure is described and evaluated. The study is designed to develop a reliable prediction method using an alternative technique and to investigate the applicability of SVMs to this type of bioinformatics problem.
Methods: Binary SVMs are trained to discriminate between two structural classes. The binary classifiers are combined in several ways to predict multi-class secondary structure.
Results: The average three-state prediction accuracy per protein (Q3) is estimated by cross-validation to be 77.07 ± 0.26% with a segment overlap (Sov) score of 73.32 ± 0.39%. The SVM performs similarly to the 'state-of-the-art' PSIPRED prediction method on a non-homologous test set of 121 proteins despite being trained on substantially fewer examples. A simple consensus of the SVM, PSIPRED and PROFsec achieves significantly higher prediction accuracy than the individual methods.
Availability: The SVM classifier is available from the authors. Work is in progress to make the method available on-line and to integrate the SVM predictions into the PSIPRED server.
The convergent beam and bend extinction contour techniques of electron microscopy are capable of providing much more information than can be obtained from conventional diffraction patterns and it is the objective of this work to examine the symmetry properties of each of these patterns. The diffraction of fast electrons by a thin parallelsided slab has been studied by group theory and by a graphical construction. We find that the pattern symmetries may be described by thirty-one diffraction groups and that each of these diffraction groups is isomorphic to one of the point groups of diperiodic plane figures and to one of the thirty-one Shubnikov groups of coloured plane figures. A graphical representation of each diffraction group is given, together with tables showing how the diffraction groups are related to the specimen point groups and under certain assumptions to the crystal point groups. These tables assume the symmetric Laue condition and ignore the presence of irreducible lattice translations normal to the slab. By using the tables, crystal point groups can be obtained from convergent beam or bend contour patterns. The method is demonstrated by experiments on several materials, but particularly on germanium and gallium-arsenide specimens since the similarity of these materials exemplifies the sensitivity of the technique.
Abstract-In this paper, we show how a dense surface point distribution model of the human face can be computed and demonstrate the usefulness of the high-dimensional shape-space for expressing the shape changes associated with growth and aging. We show how average growth trajectories for the human face can be computed in the absence of longitudinal data by using kernel smoothing across a population. A training set of three-dimensional surface scans of 199 male and 201 female subjects of between 0 and 50 years of age is used to build the model.
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