Web-based Gene Pathogenicity Analysis (WGPA): a web platform to interpret gene pathogenicity from personal genome data

UNLABELLED: As the volume of patient-specific genome sequences increases the focus of biomedical research is switching from the detection of disease-mutations to their interpretation. To this end a number of techniques have been developed that use mutation data collected within a population to predict whether individual genes are likely to be disease-causing or not. As both sequence data and associated analysis tools proliferate, it becomes increasingly difficult for the community to make sense of these data and their implications. Moreover, no single analysis tool is likely to capture all relevant genomic features that contribute to the gene's pathogenicity. Here, we introduce Web-based Gene Pathogenicity Analysis (WGPA), a web-based tool to analyze genes impacted by mutations and rank them through the integration of existing prioritization tools, which assess different aspects of gene pathogenicity using population-level sequence data. Additionally, to explore the polygenic contribution of mutations to disease, WGPA implements gene set enrichment analysis to prioritize disease-causing genes and gene interaction networks, therefore providing a comprehensive annotation of personal genomes data in disease. AVAILABILITY AND IMPLEMENTATION: wgpa.systems-genetics.net

History state formalism for Dirac's theory

We propose a history state formalism for a Dirac particle. By introducing a reference quantum clock system it is first shown that Dirac's equation can be derived by enforcing a timeless Wheeler-DeWitt-like equation for a global state. The Hilbert space of the whole system constitutes a unitary representation of the Lorentz group with respect to a properly defined invariant product, and the proper normalization of global states directly ensures standard Dirac's norm. Moreover, by introducing a second quantum clock, the previous invariant product emerges naturally from a generalized continuity equation. The invariant parameter $\tau$ associated with this second clock labels history states for different particles, yielding an observable evolution in the case of an hypothetical superposition of different masses. Analytical expressions for both space-time density and electron-time entanglement are provided for two particular families of electron's states, the former including Pryce localized particles.Comment: 9 pages, 2 figures, final versio

Book Review: Waiting for Jose: The Minutemen’s Pursuit of America

Book Review: Waiting for Jose: The Minutemen’s Pursuit of America Harel Shapira 2013 Princeton, NJ: Princeton University Press 152 pages Hardcover: $25.16 ISBN: 978-0-691-15215-

Max Hjortsberg

He lives in Livingston, Montana and works with the environmental counsel. He was born and raised in Paradise Valley, Montana. His parents came to visit a friend in the late 1960s and they fell in love with the place. It was relatively cheap and a good place to settle down. His father was a writer, so they needed somewhere relatively cheap to live. He went to college in the 1990s in New York. After graduation, he traveled around the U.S. and lived in Oregon for a time. He also lived in Atlanta, Georgia for a time and traveled through Europe, Africa and the Middle East. In 1999, he returned to Montana. He only planned on staying for a year or so to visit family and friends, but he never left. Many people who grow up in the area end up leaving when they grow up due to necessity for their careers. Livingston, Montana is among the tops towns that benefits from the Revenue of tourists who come to Yellowstone and this helps drive the local economy and, therefore, there isn’t much push back about the tourism in the area. He believes that seeing the vastness of Yellowstone and the variety of animals’ present is a humbling experience for anyone. He hopes that 100 years from now people are still able to experience the chilling feeling of the water in the rivers composed of freshly melted snow against their skin

Analysis of variables that influence the logistics costs in transport operations of a company in Colombia

Este artículo en primera medida caracteriza una serie de variables propuestas como los elementos críticos en el impacto a los costos logísticos de las operaciones de transporte de carga en el territorio nacional, seguido entonces por un análisis de percepción a una muestra intencional de empresas del sector, acerca de las mismas; dentro de los hallazgos destacados en la evaluación se reconocen al medio utilizado para transportar y a la distancia de la entrega como los elementos significativos por sus resultados porcentuales opuestos.This paper in first place characterize a number of variables proposed as critic’s elements that impact the logistics costs on the cargoes transports’ operations through the national territory, follow up by a perception analysis of a intentional sample of the transport industry field, about the same, feature findings in the analysis recognize the means of transport and the delivery distance as relevant elements for their perceptual results opposed

The rotation rates of massive stars: How slow are the slow ones?

Context: Rotation plays a key role in the life cycles of stars with masses above 8 Msun. Hence, accurate knowledge of the rotation rates of such massive stars is critical for understanding their properties and for constraining models of their evolution. Aims: This paper investigates the reliability of current methods used to derive projected rotation speeds v sin i from line-broadening signatures in the photospheric spectra of massive stars, focusing on stars that are not rapidly rotating. Methods: We use slowly rotating magnetic O-stars with well-determined rotation periods to test the Fourier transform (FT) and goodness-of-fit (GOF) methods typically used to infer projected rotation rates of massive stars. Results: For our two magnetic test stars with measured rotation periods longer than one year, i.e., with v sin i < 1 km/s, we derive v sin i ~ 40-50 km/s from both the FT and GOF methods. These severe overestimates are most likely caused by an insufficient treatment of the competing broadening mechanisms referred to as microturbulence and macroturbulence. Conclusions: These findings warn us not to rely uncritically on results from current standard techniques to derive projected rotation speeds of massive stars in the presence of significant additional line broadening, at least when v sin i <~ 50 km/s. This may, for example, be crucial for i) determining the statistical distribution of observed rotation rates of massive stars, ii) interpreting the evolutionary status and spin-down histories of rotationally braked B-supergiants, and iii) explaining the deficiency of observed O-stars with spectroscopically inferred v sin i ~ 0 km/s. Further investigations of potential shortcomings of the above techniques are presently under way.Comment: 4 pages, 4 figures, accepted for publication in A&A Letter

One More Step Towards Well-Composedness of Cell Complexes over nD Pictures

An nD pure regular cell complex K is weakly well-composed (wWC) if, for each vertex v of K, the set of n-cells incident to v is face-connected. In previous work we proved that if an nD picture I is digitally well composed (DWC) then the cubical complex Q(I) associated to I is wWC. If I is not DWC, we proposed a combinatorial algorithm to “locally repair” Q(I) obtaining an nD pure simplicial complex PS(I) homotopy equivalent to Q(I) which is always wWC. In this paper we give a combinatorial procedure to compute a simplicial complex PS(¯I) which decomposes the complement space of |PS(I)| and prove that PS(¯I) is also wWC. This paper means one more step on the way to our ultimate goal: to prove that the nD repaired complex is continuously well-composed (CWC), that is, the boundary of its continuous analog is an (n − 1)- manifold.Ministerio de Economía y Competitividad MTM2015-67072-