FAM-MDR: a flexible family-based multifactor dimensionality reduction technique to detect epistasis using related individuals

We propose a novel multifactor dimensionality reduction method for epistasis detection in small or extended pedigrees, FAM-MDR. It combines features of the Genome-wide Rapid Association using Mixed Model And Regression approach (GRAMMAR) with Model-Based MDR (MB-MDR). We focus on continuous traits, although the method is general and can be used for outcomes of any type, including binary and censored traits. When comparing FAM-MDR with Pedigree-based Generalized MDR (PGMDR), which is a generalization of Multifactor Dimensionality Reduction (MDR) to continuous traits and related individuals, FAM-MDR was found to outperform PGMDR in terms of power, in most of the considered simulated scenarios. Additional simulations revealed that PGMDR does not appropriately deal with multiple testing and consequently gives rise to overly optimistic results. FAM-MDR adequately deals with multiple testing in epistasis screens and is in contrast rather conservative, by construction. Furthermore, simulations show that correcting for lower order (main) effects is of utmost importance when claiming epistasis. As Type 2 Diabetes Mellitus (T2DM) is a complex phenotype likely influenced by gene-gene interactions, we applied FAM-MDR to examine data on glucose area-under-the-curve (GAUC), an endophenotype of T2DM for which multiple independent genetic associations have been observed, in the Amish Family Diabetes Study (AFDS). This application reveals that FAM-MDR makes more efficient use of the available data than PGMDR and can deal with multi-generational pedigrees more easily. In conclusion, we have validated FAM-MDR and compared it to PGMDR, the current state-of-the-art MDR method for family data, using both simulations and a practical dataset. FAM-MDR is found to outperform PGMDR in that it handles the multiple testing issue more correctly, has increased power, and efficiently uses all available information.

An Atkinson-Gini family of social evaluation functions

We investigate the properties of a family of social evaluation functions and inequality indices which merge the features of the family of Atkinson (1970) and S-Gini (Donaldson and Weymark (1980, 1983), Yitzhaki (1983) and Kakwani (1980)) indices. Income inequality aversion is captured by decreasing marginal utilities, and aversion to rank inequality is captured by rank-dependent ethical weights, thus providing an ethically-flexible dual basis for the assessment of inequality and equity. These ocial evaluation functions can be interpreted as average utility corrected for the illfare of relative deprivation. They can alternatively be understood as averages of altruistic well-being in a population. They moreover have a simple graphical interpretation.

Cat(0) and Cat (-1) dimensions of torsion free

We show that a particular free-by-cyclic group has CAT(0) dimension equal to 2, but CAT(-1) dimension equal to 3. We also classify the minimal proper 2-dimensional CAT(0) actions of this group; they correspond, up to scaling, to a 1-parameter family of locally CAT(0) piecewise Euclidean metrics on a fixed presentation complex for the group. This information is used to produce an infinite family of 2-dimensional hyperbolic groups, which do not act properly by isometries on any proper CAT(0) metric space of dimension 2. This family includes a free-by-cyclic group with free kernel of rank 6.

Parental education and family characteristics: educational opportunities across cohorts in Italy and Spain

Drawing on data contained in the 2005 EU-SILC, this paper investigates the disparities in educational opportunities in Italy and Spain. Its main objective is to analyse the predicted probabilities of successfully completing upper-secondary and tertiary education for individuals with different parental backgrounds, and the changes in these probabilities across birth cohorts extending from 1940 to 1980. The results suggest that the disparities in tertiary education opportunities in Italy tend to increase over time. By contrast, the gap in educational opportunity in Spain shows a marked decrease across the cohorts. Moreover, by using an intuitive decomposition strategy, the paper shows that a large part of the educational gap between individuals of different backgrounds is “composed” of the difference in the endowment of family characteristics. Specifically, it seems that more highly educated parents are more able to endow their children with a better composition of family characteristics, which accounts for a significant proportion of the disparities in educational opportunity.

El naturalismo científico en la obra de John Tyndall: Fragments of science

El análisis de los ensayos de John Tyndall, Fragments of Science, permite identificar la teoría atómica, el principio de conservación de la energía y el evolucionismo darwinista como los elementos constitutivos del andamiaje teórico del naturalismo científico. Así, en su ensayo “On the Study of Physics” se resumen sus brillantes facetas como educador y divulgador científico, desarrolladas fundamentalmente en el seno de la Royal Institution. En la lectura “On Force”, Tyndall da por finalizada la controversia Joule- Mayer sobre la primacía del descubrimiento del principio de conservación de la energía, a la vez que plantea algunas de las claves de la lucha por el liderazgo en el seno de la comunidad científica. El discurso presidencial ante la British Association de 1874 en Belfast ejemplifica el coraje de Tyndall en su empeño por demarcar los territorios de la ciencia y la religión, a la luz de los nuevos desafíos científicos. En el trasfondo subyacen los procesos de secularización de la sociedad y de profesionalización de una comunidad científica heterogénea. El compromiso cívico que Tyndall demuestra en “The Belfast Address” es digno corolario de una vida y obra que permite situarlo como paradigma de lo que, en la terminología de Turner, se ha dado en denominar científico público.

Telomere characterization in the Asteraceae family

Asteraceae or Compositae constitute one of the largest families of the angiosperms, distributed over all continents but in Antarctica, particularly well represented in temperate zones and less frequent in tropical regions. The Asteraceae have been the object of a great deal of attention from all viewpoints for their scientific as well as economic interest. Telomeres sequences are highly conservated at the ends of chromosomes across the eukaryotes. In plants, generally are formed by tandemly repeated sequences named Arabidopsis type but several exceptions have been described. The objective of the present work is to study the telomeric characterization along the whole Asteraceae family and to find, if any, the relationships between these results and the evolutionary history in this family.

Family-based affirmative action? Subversion and resilience strategies of gay father families

The present doctoral dissertation is aimed at analyzing how and with what consequences gay father families and their children’s schools negotiate possible differences in the construction of family and gender at home and in the families’ social milieus. This objective fits in with the broader goal of researching how family-school interactons are influenced by the social context such as hegemonic masculinity (Connell, 2002). The thesis is based on qualitative fieldwork carried out with 18 nonheterosexual parent families in Spain, comprising 30 interviews with 44 people. The principal participant group were 14 de novo (adoptive and surrogacy) gay father families with resident preadolescent children. The findings revealed that all the de novo families assumed open communication strategies at school with inclusive consequences: apart from incidental questions and reactions of surprise, the children did not suffer homophobic bullying. The analisis showed that the necessary condition for inclusion was not the open communication but rather illocutionary orientation (Habermas, 1984; Soler & Flecha, 2010), understood as the parents’ sensitivity to the attitudes of their children and schools. The schools received the families in an inclusive manner, which, however, was only receptive and not proactive, therefore some of the families (reconstituted ones), coerced by the social context, got excluded. Gender relations at home were predominantly androgynous, and outside home predominantly traditional, yet the children negotiated this difference with inclusive consequences. They participated in hegemonic collective practices, thus confirming the thesis on the similarity between homo- and heterosexual-parent families (Golombok, 2006). Consistently, also the families’ identity politics was “assimilationist” and non-queer. Admittedly, the analisis showed that such a politics was increased by social expectations. Still, the findings suggest that educational and other family policies should draw on broad agendas of gender and family diversity rather than on the politics of difference and the unique status of LGB families.

On a family of strongly regular graphs with λ = 1

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