Application of a rank-based genetic association test to age-at-onset data from the Collaborative Study on the Genetics of Alcoholism study.

Association studies of quantitative traits have often relied on methods in which a normal distribution of the trait is assumed. However, quantitative phenotypes from complex human diseases are often censored, highly skewed, or contaminated with outlying values. We recently developed a rank-based association method that takes into account censoring and makes no distributional assumptions about the trait. In this study, we applied our new method to age-at-onset data on ALDX1 and ALDX2. Both traits are highly skewed (skewness > 1.9) and often censored. We performed a whole genome association study of age at onset of the ALDX1 trait using Illumina single-nucleotide polymorphisms. Only slightly more than 5% of markers were significant. However, we identified two regions on chromosomes 14 and 15, which each have at least four significant markers clustering together. These two regions may harbor genes that regulate age at onset of ALDX1 and ALDX2. Future fine mapping of these two regions with densely spaced markers is warranted.

Spin three gauge theory revisited

We study the problem of consistent interactions for spin-3 gauge fields in flat spacetime of arbitrary dimension 3$">n>3. Under the sole assumptions of Poincaré and parity invariance, local and perturbative deformation of the free theory, we determine all nontrivial consistent deformations of the abelian gauge algebra and classify the corresponding deformations of the quadratic action, at first order in the deformation parameter. We prove that all such vertices are cubic, contain a total of either three or five derivatives and are uniquely characterized by a rank-three constant tensor (an internal algebra structure constant). The covariant cubic vertex containing three derivatives is the vertex discovered by Berends, Burgers and van Dam, which however leads to inconsistencies at second order in the deformation parameter. In dimensions 4$">n>4 and for a completely antisymmetric structure constant tensor, another covariant cubic vertex exists, which contains five derivatives and passes the consistency test where the previous vertex failed. © SISSA 2006.

Finite groups and geometries: a view on the present state and on the future

The model: groups of Lie-Chevalley type and buildingsThis paper is not the presentation of a completed theory but rather a report on a search progressing as in the natural sciences in order to better understand the relationship between groups and incidence geometry, in some future sought-after theory Τ. The search is based on assumptions and on wishes some of which are time-dependent, variations being forced, in particular, by the search itself.A major historical reference for this subject is, needless to say, Klein's Erlangen Programme. Klein's views were raised to a powerful theory thanks to the geometric interpretation of the simple Lie groups due to Tits (see for instance), particularly his theory of buildings and of groups with a BN-pair (or Tits systems). Let us briefly recall some striking features of this.Let G be a group of Lie-Chevalley type of rank r, denned over GF(q), q = pn, p prime. Let Xr denote the Dynkin diagram of G. To these data corresponds a unique thick building B(G) of rank r over the Coxeter diagram Xr (assuming we forget arrows provided by the Dynkin diagram). It turns out that B(G) can be constructed in a uniform way for all G, from a fixed p-Sylow subgroup U of G, its normalizer NG(U) and the r maximal subgroups of G containing NG(U).

A higher order Hopfield network for vector quantisation

A higher order version of the Hopfield neural network is presented which will perform a simple vector quantisation or clustering function. This model requires no penalty terms to impose constraints in the Hopfield energy, in contrast to the usual one where the energy involves only terms quadratic in the state vector. The energy function is shown to have no local minima within the unit hypercube of the state vector so the network only converges to valid final states. Optimisation trials show that the network can consistently find optimal clusterings for small, trial problems and near optimal ones for a large data set consisting of the intensity values from the digitised, grey-level image.

Risk mitigation framework for a robust design process

The increasing complexity of new manufacturing processes and the continuously growing range of fabrication options mean that critical decisions about the insertion of new technologies must be made as early as possible in the design process. Mitigating the technology risks under limited knowledge is a key factor and major requirement to secure a successful development of the new technologies. In order to address this challenge, a risk mitigation methodology that incorporates both qualitative and quantitative analysis is required. This paper outlines the methodology being developed under a major UK grand challenge project - 3D-Mintegration. The main focus is on identifying the risks through identification of the product key characteristics using a product breakdown approach. The assessment of the identified risks uses quantification and prioritisation techniques to evaluate and rank the risks. Traditional statistical process control based on process capability and six sigma concepts are applied to measure the process capability as a result of the risks that have been identified. This paper also details a numerical approach that can be used to undertake risk analysis. This methodology is based on computational framework where modelling and statistical techniques are integrated. Also, an example of modeling and simulation technique is given using focused ion beam which is among the investigated in the project manufacturing processes.

Image denoise by fourth-order PDE based on the changes of laplacian

Fourth-order partial differential equation (PDE) proposed by You and Kaveh (You-Kaveh fourth-order PDE), which replaces the gradient operator in classical second-order nonlinear diffusion methods with a Laplacian operator, is able to avoid blocky effects often caused by second-order nonlinear PDEs. However, the equation brought forward by You and Kaveh tends to leave the processed images with isolated black and white speckles. Although You and Kaveh use median filters to filter these speckles, median filters can blur the processed images to some extent, which weakens the result of You-Kaveh fourth-order PDE. In this paper, the reason why You-Kaveh fourth-order PDE can leave the processed images with isolated black and white speckles is analyzed, and a new fourth-order PDE based on the changes of Laplacian (LC fourth-order PDE) is proposed and tested. The new fourth-order PDE preserves the advantage of You-Kaveh fourth-order PDE and avoids leaving isolated black and white speckles. Moreover, the new fourth-order PDE keeps the boundary from being blurred and preserves the nuance in the processed images, so, the processed images look very natural.

The use of acoustic emission monitoring to rank paper materials with respect to their fracture toughness

In this study, a simplified Acoustic Emission (AE) equipment, in essence an AE signal conditioner and a USB (Universal Serial Bus) data acquisition system, is used to study what happens in paper structures during mechanical loading. By the use of such equipment, some parameters that can be extracted are e.g. the stress and strain at onset of AE, the stress and strain at the onset of rapid AE defined as some numerical factor (larger then one) times the initial emission rate, the emission rate at the first stage of loading and the stress and strain at final failure i.e. when the specimen loses its load carrying ability.In this study however, the interest is focused on one particular parameter i.e. the elastic strain energy density W c at onset of AE. This is a parameter with a clear physical meaning and in this study, the correlation between this parameter and a fracture toughness measure, is investigated.The conclusion is that when nine different paper materials (with a large span regarding properties) are considered, there is a correlation (however not linear) between these two parameters.

The Partitioning Of Secondary Production Among Species In Benthic Communities

The way in which total secondary production is partitioned amongst species in various macrofauna communities (Amphiura, Venus, Abra, Modiolus) around the British Isles is discussed. When the proportion of total production is plotted for each species, ranked in order of productive importance, curves are produced which are characteristic of particular physical conditions. The shapes of the curves are independent of the actual species involved, but depend on the proportion of individuals in the community which adopt a particular feeding behaviour, and the scope for diversification within trophic groups. The form of these curves correlates closely with bottom currents and associated bed-stresses, since these affect both the nature of the food supply to bottom animals and the nature of the substrate. These observations have important implications for the structure and functioning of benthic communities. Comparison of production partitioning in the meiofauna of mud and sand substrates indicates a remarkable similarity within trophic groups although the partitioning of production between trophic groups is very different. The shapes of production-rank curves again appear to depend on the scope for diversification within trophic groups. In the meiofauna resources are partitioned more equitably than in the macrofauna. There is a marked discontinuity in the lognormal distribution of body sizes within integrated benthic communities at the meiofauna-macrofauna size boundary.

Validations of high-rank syntaxa in Potamogetonetea and Scheuchzerio-Caricetea fuscae

This paper presents the validation of five syntaxonomic concepts –two orders (Callitricho hamulatae-Ranunculetalia aquatilis, Zannichellietalia pedicellatae) and three alliances (Ranunculion aquatilis, Nelumbion nuciferae and Caricion viridulo-trinervis).