FINDbase: a worldwide database for genetic variation allele frequencies updated

Frequency of INherited Disorders database (FIND base; http://www.findbase.org) records frequencies of causative genetic variations worldwide. Database records include the population and ethnic group or geographical region, the disorder name and the related gene, accompanied by links to any related external resources and the genetic variation together with its frequency in that population. In addition to the regular data content updates, we report the following significant advances: (i) the systematic collection and thorough documentation of population/ethnic group-specific pharmacogenomic markers allele frequencies for 144 markers in 14 genes of pharmacogenomic interest from different classes of drug-metabolizing enzymes and transporters, representing 150 populations and ethnic groups worldwide; (ii) the development of new data querying and visualization tools in the expanded FINDbase data collection, built around Microsoft’s PivotViewer software (http://www.getpivot.com), based on Microsoft Silverlight technology (http://www.silverlight.net) that facilitates querying of large data sets and visualizing the results; and (iii) the establishment of the first database journal, by affiliating FINDbase with Human Genomics and Proteomics, a new open-access scientific journal, which would serve as a prime example of a non-profit model for sustainable database funding

Heritability of Stroop and flanker performance in 12-year old children

BACKGROUND: There is great interest in appropriate phenotypes that serve as indicator of genetically transmitted frontal (dys)function, such as ADHD. Here we investigate the ability to deal with response conflict, and we ask to what extent performance variation on response interference tasks is caused by genetic variation. We tested a large sample of 12-year old monozygotic and dizygotic twins on two well-known and closely related response interference tasks; the color Stroop task and the Eriksen flanker task. Using structural equation modelling we assessed the heritability of several performance indices derived from those tasks. RESULTS: In the Stroop task we found high heritabilities of overall reaction time and – more important – Stroop interference (h(2 )= nearly 50 %). In contrast, we found little evidence of heritability on flanker performance. For both tasks no effects of sex on performance variation were found. CONCLUSIONS: These results suggest that normal variation in Stroop performance is influenced by underlying genetic variation. Given that Stroop performance is often hampered not only in people suffering from frontal dysfunction, but also in their unaffected relatives, we conclude that this variable may constitute a suitable endophenotype for future genetic studies. We discuss several reasons for the absence of genetic effects on the flanker task

Waist Circumference and Body Mass Index as Predictors of Health Care Costs

BACKGROUND: In the present study we analyze the relationship between body mass index (BMI) and waist circumference (WC) and future health care costs. On the basis of the relation between these anthropometric measures and mortality, we hypothesized that for all levels of BMI increased WC implies added future health care costs (Hypothesis 1) and for given levels of WC increased BMI entails reduced future health care costs (Hypothesis 2). We furthermore assessed whether a combination of the two measures predicts health care costs better than either individual measure. RESEARCH METHODOLOGY/PRINCIPAL FINDINGS: Data were obtained from the Danish prospective cohort study Diet, Cancer and Health. The population includes 15,334 men and 16,506 women 50 to 64 years old recruited in 1996 to 1997. The relationship between future health care costs and BMI and WC in combination was analyzed by use of categorized and continuous analyses. The analysis confirms Hypothesis 1, reflecting that an increased level of abdominal fat for a given BMI gives higher health care costs. Hypothesis 2, that BMI had a protective effect for a given WC, was only confirmed in the continuous analysis and for a subgroup of women (BMI<30 kg/m(2) and WC <88 cm). The relative magnitude of the estimates supports that the regressions including WC as an explanatory factor provide the best fit to the data. CONCLUSION: The study showed that WC for given levels of BMI predicts increased health costs, whereas BMI for given WC did not predict health costs except for a lower cost in non-obese women with normal WC. Combining WC and BMI does not give a better prediction of costs than WC alone

On the Relationship Between Complex Potentials and Strings of Projection Operators

It is of interest in a variety of contexts, and in particular in the arrival time problem, to consider the quantum state obtained through unitary evolution of an initial state regularly interspersed with periodic projections onto the positive $x$-axis (pulsed measurements). Echanobe, del Campo and Muga have given a compelling but heuristic argument that the state thus obtained is approximately equivalent to the state obtained by evolving in the presence of a certain complex potential of step-function form. In this paper, with the help of the path decomposition expansion of the associated propagators, we give a detailed derivation of this approximate equivalence. The propagator for the complex potential is known so the bulk of the derivation consists of an approximate evaluation of the propagator for the free particle interspersed with periodic position projections. This approximate equivalence may be used to show that to produce significant reflection, the projections must act at time spacing less than 1/E, where E is the energy scale of the initial state.Comment: 29 pages, LaTex, 4 figures. Substantial revision

Theory and Practice in Quantitative Genetics

With the rapid advances in molecular biology, the near completion of the human genome, the development of appropriate statistical genetic methods and the availability of the necessary computing power, the identification of quantitative trait loci has now become a realistic prospect for quantitative geneticists. We briefly describe the theoretical biometrical foundations underlying quantitative genetics. These theoretical underpinnings are translated into mathematical equations that allow the assessment of the contribution of observed (using DNA samples) and unobserved (using known genetic relationships) genetic variation to population variance in quantitative traits. Several statistical models for quantitative genetic analyses are described, such as models for the classical twin design, multivariate and longitudinal genetic analyses, extended twin analyses, and linkage and association analyses. For each, we show how the theoretical biometrical model can be translated into algebraic equations that may be used to generate scripts for statistical genetic software packages, such as Mx, Lisrel, SOLAR, or MERLIN. For using the former program a web-library (available from http://www.psy.vu.nl/mxbib) has been developed of freely available scripts that can be used to conduct all genetic analyses described in this paper

Electromagnetic waves in NUT space: Solutions to the Maxwell equations

In this paper, using the Newman-Penrose formalism, we find the Maxwell equations in NUT space and after separation into angular and radial components solve them analytically. All the angular equations are solved in terms of Jaccobi polynomials. The radial equations are transformed into Hypergeometric and Heun's equations with the right hand sides including terms of different order in the frequency of the perturbation which allow solutions in the expansion of this parameter.Comment: 19 pages, Revtex format, Minor changes including an extention of the discussion and typos correction, (Extended version of the article presented to the GR16 conference, July 15-21 2001, Durban, South Africa

ETHNOS: A versatile electronic tool for the development and curation of national genetic databases

National and ethnic mutation databases (NEMDBs) are emerging online repositories, recording extensive information about the described genetic heterogeneity of an ethnic group or population. These resources facilitate the provision of genetic services and provide a comprehensive list of genomic variations among different populations. As such, they enhance awareness of the various genetic disorders. Here, we describe the features of the ETHNOS software, a simple but versatile tool based on a flat-file database that is specifically designed for the development and curation of NEMDBs. ETHNOS is a freely available softw

The self-dual gauge fields and the domain wall fermion zero modes

A new type of gauge fixing of the Coulomb gauge domain wall fermion system that reduces the fluctuation of the effective running coupling and the effective mass of arbitrary momentum direction including the region outside the cylinder cut region is proposed and tested in the $16^3\times 32\times 16$ gauge configurations of RBC/UKQCD collaboration. The running coupling at the lowest momentum point does not show infrared suppression and compatible with the experimental data extracted from the JLab collaboration. The source of the fluctuation of the effective mass near momentum $p=$0.6GeV region is expected to be due to the domain wall fermion zero modes.Comment: 12 pages 2 figures, extended arguments and references adde