Association between ACTA1 candidate gene and performance, organs and carcass traits in broilers

This study investigates the genetic association of the SNP present in the ACTA1 gene with performance traits, organs and carcass of broilers to help marker-assisted selection of a paternal broiler line (TT) from EMBRAPA Swine and Poultry, Brazil. Genetic and phenotypic data of 1,400 broilers for 68 traits related to body performance, organ weights, weight of carcass parts, and yields as a percentage of organs and carcass parts were used. The maximum likelihood method, considering 4 analytical models, was used to analyze the genetic association between the SNP and these important economic traits. The association analysis was performed using a mixed animal model including the random effect of the animal (polygenic), and the fixed effects of sex (2 levels), hatch (5 levels) and SNP (3 levels), besides the random error. The traits significantly associated (P < 0.05) with the SNP were analyzed, along with body weight at 42 days of age (BW42), by the restricted maximum likelihood method using the multi-trait animal model to estimate genetic parameters. The analysis included the residual and additive genetic random effects and the sex-hatch fixed effect. The additive effects of the SNP were associated with breast meat (BMY), liver yield (LIVY), body weight at 35 days of age (BW35); drumstick skin (DSW), drumstick (DW) and breast (BW) weights. The heritability estimates for these traits, in addition to BW42, ranged from 0.24 ± 0.06 to 0.45 ± 0.08 for LIVY and BW35, respectively. The genetic correlation ranged from 0.02 ± 0.18 for LIVY and BMY to 0.97 ± 0.01 for BW35 and BW42. Based on the results of this study, it can be concluded that ACTA1 gene is associated with performance traits BW35, LIV and BMY, DW, BW and DW adjusted for body weight at 42 days of age. Therefore, the ACTA1 gene is an important molecular marker that could be used together with others already described to increase the economically important traits in broilers.

Evoluzione del progetto casa: un modello di rappresentazione

Il tema della casa, e più in generale dell’abitare, è argomento tornato al centro del dibattito sociale più di quanto non sia avvenuto in campo tecnico‐architettonico. Sono infatti abbastanza evidenti i limiti delle proposte che nel recente passato sono state, di norma, elaborate nelle nostre città, proposte molto spesso incapaci di tener conto delle molteplici dimensioni che l’evoluzione dei costumi e della struttura urbana e sociale ha indotto anche nella sfera della residenza e che sono legate a mutate condizioni lavorative, alla diversità di cultura e di religione di nuovi gruppi etnici insediati, alla struttura dei nuclei familiari (ove ancora esistano) ed a molti altri fattori; cambiate le esigenze, un tempo composte nella struttura della famiglia, sono cambiati desideri e richieste mentre l’apparato normativo è rimasto strutturato su modelli sociali ed economici superati. Il tema dunque assume, oggi più che mai, connotazioni con forti relazioni fra problematiche funzionali, tecnologiche e simboliche. Stimolata da queste osservazioni generali, la ricerca si è mossa partendo da un’analisi di casi realizzati nel periodo storico in cui si è esaurita, in Italia, l’emergenza abitativa post‐bellica, nell’intento di riconsiderare l’approccio vitale che era stato messo in campo in quella drammatica circostanza, ma già consapevole che lo sviluppo che avrebbe poi avuto sarebbe stato molto più circoscritto. La tesi infatti, dopo aver osservato rapidamente la consistenza tipologica ed architettonica di quegli interventi, per trarne suggestioni capaci di suggerire un credibile e nuovo prototipo da indagare, attraverso un’analisi comparativa sugli strumenti oggi disponibili per la comunicazione e gestione del progetto, si è soffermata sulla potenzialità delle nuove tecnologie dell'informazione (IT). Non si può infatti non osservare che esse hanno modificato non solo il modo di vivere, di lavorare, di produrre documenti e di scambiare informazioni, ma anche quello di controllare il processo di progetto. Il fenomeno è tuttora in corso ma è del tutto evidente che anche l'attività progettuale, seppure in un settore quale è quello dell'industria edilizia, caratterizzato da una notevole inerzia al cambiamento e restio all'innovazione, grazie alle nuove tecnologie ha conosciuto profonde trasformazioni (già iniziate con l’avvento del CAD) che hanno accelerato il progressivo mutamento delle procedure di rappresentazione e documentazione digitale del progetto. Su questo tema quindi si è concentrata la ricerca e la sperimentazione, valutando che l'”archivio di progetto integrato”, (ovvero IPDB ‐ Integrated Project Database) è, probabilmente, destinato a sostituire il concetto di CAD (utilizzato fino ad ora per il settore edilizio ed inteso quale strumento di elaborazione digitale, principalmente grafica ma non solo). Si è esplorata quindi, in una prima esperienza di progetto, la potenzialità e le caratteristiche del BIM (Building Information Model) per verificare se esso si dimostra realmente capace di formulare un archivio informativo, di sostegno al progetto per tutto il ciclo di vita del fabbricato, ed in grado di definirne il modello tridimensionale virtuale a partire dai suoi componenti ed a collezionare informazioni delle geometrie, delle caratteristiche fisiche dei materiali, della stima dei costi di costruzione, delle valutazioni sulle performance di materiali e componenti, delle scadenze manutentive, delle informazioni relative a contratti e procedure di appalto. La ricerca analizza la strutturazione del progetto di un edificio residenziale e presenta una costruzione teorica di modello finalizzata alla comunicazione e gestione della pianificazione, aperta a tutti i soggetti coinvolti nel processo edilizio e basata sulle potenzialità dell’approccio parametrico.

Harmful algae and their potential impacts on the coastal ecosystem: growth and toxin production dynamics

The main goal of the present thesis was to study some harmful algal species which cause blooms in Italian coastal waters, leading to consequences for human health, coastal ecosystem, fishery and tourism. In particular, in the first part of this thesis the toxicity of Adriatic strains of the raphidophyte Fibrocapsa japonica was investigated. Despite several hypotheses have been proposed for the toxic mechanism of the raphidophytes, especially for the species Chattonella antiqua and C. marina, which have been studied more extensively, just a few studies on the toxic effects of these species for different organisms were reported. Moreover, a careful reading of the literature evidenced as any ichthyotoxic events reported worldwide can be linked to F. japonica blooms. Although recently several studies were performed on F. japonica strains from the USA, Japan, Australia, New Zealand, the Netherlands, Germany, and France in order to characterize their growth and toxicity features, the work reported in this thesis results one of the first investigation on the toxic effects of F. japonica for different organisms, such as bacteria, crustaceans and fish. Mortality effects, together with haemolysis of fish erythrocytes, probably due to the relatively high amount of PUFAs produced by this species, were observed. Mortality for fish, however, was reported only at a high cell density and after a long exposition period (9-10 days); moreover a significant increase of H2O2 obtained in the tanks where sea basses were exposed to F. japonica was also relevant. This result may justify the absence of ichthyotoxic events in the Italian coasts, despite F. japonica blooms detected in these areas were characterized by high cell densities. This work reports also a first complete characterization of the fatty acids produced and extracellularly released by the Adriatic F. japonica, and results were also compared with the fatty acid profile of other strains. The absence of known brevetoxins in F. japonica algal extracts was also highlighted, leading to the hypothesis that the toxicity of F. japonica may be due to a synergic effect of PUFAs and ROS. Another microalgae that was studied in this thesis is the benthic dinoflagellate Ostreopsis cf. ovata. This species was investigated with the aim to investigate the effect of environmental parameters on its growth and toxicity. O. cf. ovata, in fact, shows different blooming periods along the Italian coasts and even the reported toxic effects are variable. The results of this work confirmed the high variability in the growth dynamic and toxin content of several Italian strains which were isolated in recent years along the Adriatic and Tyrrhenian Seas. Moreover, the effects of temperature and salinity on the behaviour of the different isolates are in good agreement with the results obtained from field surveys, which evidence as the environmental parameters are important factors modulating O. cf. ovata proliferation. Another relevant result that was highlighted is the anomaly in the production of palytoxin-like compounds reported by one of the studied isolate, in particular the one isolated in 2008 in Ancona (Adriatic Sea). Only this strain reported the absence of two (ovatoxin-b and –c) of the five ovatoxins so far known in the toxin profile and a different relative abundance of the other toxins. The last aspect that was studied in this thesis regards the toxin biosythesis. In fact, toxins produced (palytoxin-like compounds) or supposed to be produced (brevetoxin-like compounds) by O. cf. ovata and F. japonica, respectively, are polyketides, which are highly oxygenated compounds synthesized by complex enzymes known as polyketide synthase (PKS) enzymes. These enzymes are multi-domain complexes that structurally and functionally resemble the fatty acid synthases (FASs). This work reports the first study of PKS proteins in the dinoflagellates O. cf. ovata, C. monotis and in the raphidophyte F. japonica. For the first time some PKSs were identified in these species, confirming the presence of PKS proteins predicted by the in silico translation of the transcripts found in K. brevis also in other species. The identification of O. cf. ovata PKSs and the localization of the palytoxin-like compounds produced by this dinoflagellate in a similar location (chloroplast) as that observed for other dinoflagellate and cyanobacterial toxins provides some indication that these proteins may be involved in polyketide biosynthesis. However, their potential function as fatty acid synthases cannot be ruled out, as plant fatty acid synthesis also occurs within chloroplasts. This last hypothesis is also supported by the fact that in all the investigated species, and in particular in F. japonica, PKS proteins were present. Therefore, these results provide an important contribution to the study of the polyketides and of the involvement of PKS proteins in the toxin biosynthesis.

Numerical and analytical approaches to strongly correlated electron systems

In this thesis we consider three different models for strongly correlated electrons, namely a multi-band Hubbard model as well as the spinless Falicov-Kimball model, both with a semi-elliptical density of states in the limit of infinite dimensions d, and the attractive Hubbard model on a square lattice in d=2. In the first part, we study a two-band Hubbard model with unequal bandwidths and anisotropic Hund's rule coupling (J_z-model) in the limit of infinite dimensions within the dynamical mean-field theory (DMFT). Here, the DMFT impurity problem is solved with the use of quantum Monte Carlo (QMC) simulations. Our main result is that the J_z-model describes the occurrence of an orbital-selective Mott transition (OSMT), in contrast to earlier findings. We investigate the model with a high-precision DMFT algorithm, which was developed as part of this thesis and which supplements QMC with a high-frequency expansion of the self-energy. The main advantage of this scheme is the extraordinary accuracy of the numerical solutions, which can be obtained already with moderate computational effort, so that studies of multi-orbital systems within the DMFT+QMC are strongly improved. We also found that a suitably defined Falicov-Kimball (FK) model exhibits an OSMT, revealing the close connection of the Falicov-Kimball physics to the J_z-model in the OSM phase. In the second part of this thesis we study the attractive Hubbard model in two spatial dimensions within second-order self-consistent perturbation theory. This model is considered on a square lattice at finite doping and at low temperatures. Our main result is that the predictions of first-order perturbation theory (Hartree-Fock approximation) are renormalized by a factor of the order of unity even at arbitrarily weak interaction (U->0). The renormalization factor q can be evaluated as a function of the filling n for 00, the q-factor vanishes, signaling the divergence of self-consistent perturbation theory in this limit. Thus we present the first asymptotically exact results at weak-coupling for the negative-U Hubbard model in d=2 at finite doping.

A clustering method for robust and reliable large scale functional and structural protein sequence annotation

Bioinformatics, in the last few decades, has played a fundamental role to give sense to the huge amount of data produced. Obtained the complete sequence of a genome, the major problem of knowing as much as possible of its coding regions, is crucial. Protein sequence annotation is challenging and, due to the size of the problem, only computational approaches can provide a feasible solution. As it has been recently pointed out by the Critical Assessment of Function Annotations (CAFA), most accurate methods are those based on the transfer-by-homology approach and the most incisive contribution is given by cross-genome comparisons. In the present thesis it is described a non-hierarchical sequence clustering method for protein automatic large-scale annotation, called “The Bologna Annotation Resource Plus” (BAR+). The method is based on an all-against-all alignment of more than 13 millions protein sequences characterized by a very stringent metric. BAR+ can safely transfer functional features (Gene Ontology and Pfam terms) inside clusters by means of a statistical validation, even in the case of multi-domain proteins. Within BAR+ clusters it is also possible to transfer the three dimensional structure (when a template is available). This is possible by the way of cluster-specific HMM profiles that can be used to calculate reliable template-to-target alignments even in the case of distantly related proteins (sequence identity < 30%). Other BAR+ based applications have been developed during my doctorate including the prediction of Magnesium binding sites in human proteins, the ABC transporters superfamily classification and the functional prediction (GO terms) of the CAFA targets. Remarkably, in the CAFA assessment, BAR+ placed among the ten most accurate methods. At present, as a web server for the functional and structural protein sequence annotation, BAR+ is freely available at http://bar.biocomp.unibo.it/bar2.0.

Numerische und analytische Untersuchungen stark korrelierter fermionischer Mehrbandsysteme

In dieser Arbeit werden vier unterschiedliche, stark korrelierte, fermionische Mehrbandsysteme untersucht. Es handelt sich dabei um ein Mehrstörstellen-Anderson-Modell, zwei Hubbard-Modelle sowie ein Mehrbandsystem, wie es sich aus einer ab initio-Beschreibung für ein korreliertes Halbmetall ergibt.rnrnDie Betrachtung des Mehrstörstellen-Anderson-Modells konzentriert sich auf die Untersuchung des Einflusses der Austauschwechselwirkung und der nicht-lokalen Korrelationen zwischen zwei Störstellen in einem einfach-kubischen Gitter. Das zentrale Resultat ist die Abstandsabhängigkeit der Korrelationen der Störstellenelektronen, welche stark von der Gitterdimension und der relativen Position der Störstellen abhängen. Bemerkenswert ist hier die lange Reichweite der Korrelationen in der Diagonalrichtung des Gitters. Außerdem ergibt sich, dass eine antiferromagnetische Austauschwechselwirkung ein Singulett zwischen den Störstellenelektronen gegenüber den Kondo-Singuletts der einzelnen Störstellen favorisiert und so den Kondo-Effekt der einzelnen Störstellen behindert.rnrnEin Zweiband-Hubbard-Modell, das Jz-Modell, wird im Hinblick auf seine Mott-Phasen in Abhängigkeit von Dotierung und Kristallfeldaufspaltung auf dem Bethe-Gitter untersucht. Die Entartung der Bänder ist durch eine unterschiedliche Bandbreite aufgehoben. Wichtigstes Ergebnis sind die Phasendiagramme in Bezug auf Wechselwirkung, Gesamtfüllung und Kristallfeldparameter. Im Vergleich zu Einbandmodellen kommen im Jz-Modell sogenannte orbital-selektive Mott-Phasen hinzu, die, abhängig von Wechselwirkung, Gesamtfüllung und Kristallfeldparameter, einerseits metallischen und andererseits isolierenden Charakter haben. Ein neuer Aspekt ergibt sich durch den Kristallfeldparameter, der die ionischen Einteilchenniveaus relativ zueinander verschiebt, und für bestimmte Werte eine orbital-selektive Mott-Phase des breiten Bands ermöglicht. Im Vergleich mit analytischen Näherungslösungen und Einbandmodellen lassen sich generische Vielteilchen- und Korrelationseffekte von typischen Mehrband- und Einteilcheneffekten differenzieren.rnrnDas zweite untersuchte Hubbard-Modell beschreibt eine magneto-optische Falle mit einer endlichen Anzahl Gitterplätze, in welcher fermionische Atome platziert sind. Es wird eine z-antiferromagnetische Phase unter Berücksichtigung nicht-lokaler Vielteilchenkorrelationen erhalten, und dabei werden bekannte Ergebnisse einer effektiven Einteilchenbeschreibung verbessert.rnrnDas korrelierte Halbmetall wird im Rahmen einer Mehrbandrechnung im Hinblick auf Korrelationseffekte untersucht. Ausgangspunkt ist eine ab initio-Beschreibung durch die Dichtefunktionaltheorie (DFT), welche dann durch die Hinzunahme lokaler Korrelationen ergänzt wird. Die Vielteilcheneffekte werden an Hand einer einfachen Wechselwirkungsnäherung verdeutlicht, und für ein Wechselwirkungsmodell in sphärischer Symmetrie präzisiert. Es ergibt sich nur eine schwache Quasiteilchenrenormierung. Besonders für röntgenspektroskopische Experimente wird eine gute Übereinstimmung erzielt.rnrnDie numerischen Ergebnisse für das Jz-Modell basieren auf Quanten-Monte-Carlo-Simulationen im Rahmen der dynamischen Molekularfeldtheorie (DMFT). Für alle anderen Systeme wird ein Mehrband-Algorithmus entwickelt und implementiert, welcher explizit nicht-diagonale Mehrbandprozesse berücksichtigt.rnrn

Experimental Analysis and Numerical Simulation of Quench in Superconducting HTS Tapes and Coils

The quench characteristics of second generation (2 G) YBCO Coated Conductor (CC) tapes are of fundamental importance for the design and safe operation of superconducting cables and magnets based on this material. Their ability to transport high current densities at high temperature, up to 77 K, and at very high fields, over 20 T, together with the increasing knowledge in their manufacturing, which is reducing their cost, are pushing the use of this innovative material in numerous system applications, from high field magnets for research to motors and generators as well as for cables. The aim of this Ph. D. thesis is the experimental analysis and numerical simulations of quench in superconducting HTS tapes and coils. A measurements facility for the characterization of superconducting tapes and coils was designed, assembled and tested. The facility consist of a cryostat, a cryocooler, a vacuum system, resistive and superconducting current leads and signal feedthrough. Moreover, the data acquisition system and the software for critical current and quench measurements were developed. A 2D model was developed using the finite element code COMSOL Multiphysics R . The problem of modeling the high aspect ratio of the tape is tackled by multiplying the tape thickness by a constant factor, compensating the heat and electrical balance equations by introducing a material anisotropy. The model was then validated both with the results of a 1D quench model based on a non-linear electric circuit coupled to a thermal model of the tape, to literature measurements and to critical current and quench measurements made in the cryogenic facility. Finally the model was extended to the study of coils and windings with the definition of the tape and stack homogenized properties. The procedure allows the definition of a multi-scale hierarchical model, able to simulate the windings with different degrees of detail.

Influence of optic flow on postural control

The study of optic flow on postural control may explain how self-motion perception contributes to postural stability in young males and females and how such function changes in the old falls risk population. Study I: The aim was to examine the optic flow effect on postural control in young people (n=24), using stabilometry and surface-electromyography. Subjects viewed expansion and contraction optic flow stimuli which were presented full field, in the foveral or in the peripheral visual field. Results showed that optic flow stimulation causes an asymmetry in postural balance and a different lateralization of postural control in men and women. Gender differences evoked by optic flow were found both in the muscle activity and in the prevalent direction of oscillation. The COP spatial variability was reduced during the view of peripheral stimuli which evoked a clustered prevalent direction of oscillation, while foveal and random stimuli induced non-distributed directions. Study II was aimed at investigating the age-related mechanisms of postural stability during the view of optic flow stimuli in young (n=17) and old (n=19) people, using stabilometry and kinematic. Results showed that old people showed a greater effort to maintain posture during the view of optic flow stimuli than the young. Elderly seems to use the head stabilization on trunk strategy. Visual stimuli evoke an excitatory input on postural muscles, but the stimulus structure produces different postural effects. Peripheral optic flow stabilizes postural sway, while random and foveal stimuli provoke larger sway variability similar to those evoked in baseline. Postural control uses different mechanisms within each leg to produce the appropriate postural response to interact with extrapersonal environment. Ageing reduce the effortlessness to stabilize posture during optic flow, suggesting a neuronal processing decline associated with difficulty integrating multi-sensory information of self-motion perception and increasing risk of falls.

Role Stress and Job Outcomes in Public Accounting: Have the Gender Experiences Converged?

Using data collected from professionals in a large U.S. national public accounting firm, we explored gender differences in perceived levels of role stress and job outcomes as well as the effects of a healthy lifestyle as a coping mechanism for role stress, burnout and related job outcomes. Our large sample size (1,681) and equal participation by women (49.7%) and men (50.3%) allowed us to analyze the causal relationships of these variables using a previously tested multi-disciplinary research model (Jones, Norman, & Wier, 2010). We found that women and men perceive similar levels of role stress as defined by role ambiguity and role overload, and that women perceive less role conflict. Men and women perceive similar levels of job satisfaction and job performance. Contrary to earlier studies, women do not report higher levels of turnover intentions. Results show that efforts of the public accounting firms over the past decade may be somewhat successful in reducing the levels of role stress and turnover intentions among women. Another plausible explanation could be that an expansionist theory of gender, work and family (Barnett & Hyde, 2001) may now be responsible for improved well-being of females to the point where the genders have converged in their experience of role stress and job outcomes in public accounting.

The Modern Urban Cartography of Present-day Bratislava.

Following an extensive survey of sources on urban development and comparative analyses of Bratislava and other major Central European cities and Slovak regional centres, Divinsky completed a detailed study of Bratislava's spatial structure using the most recent approaches of the so-called Belgian school. He also produced an intraurban regionalisation of Bratislava as a multi-structural interactive model, mapped and characterised by the cardinal parameters, processes, trends and inequalities of population and housing in each spatial element of the model. The field survey entailed a seven-month physical investigation of the territory using a "street by street, block by block, house by house and locality by locality" system to ensure that no areas were missed. A second field survey was carried out two years later to check on transformations. An important feature of the research was the concept of the morphological city, which was defined as "a continuously built-up area of all urban functions (i.e. excluding agricultural lands and forests lying outside the city which serve for half-day recreation) made up of spatial-structural units fulfilling certain criteria". The most important criteria was a minimum population density per unit of no less than 650 persons per square kilometre, except in the case of units totally surrounded by units of higher densities, where it could be lower. The morphological city as defined here includes only 36% of the territory of the administrative city, but 95% of the popula tion, giving a much higher population density which better reflects the urban reality of Bratislava.

Kinetic assessment of persistent halogenated xenobiotics in cell culture models: comparison of mono- and poly-halogenated compounds

We evaluated the suitability of single and multiple cell type cultures as model systems to characterise cellular kinetics of highly lipophilic compounds with potential ecotoxicological impact. Confluent mono-layers of human skin fibroblasts, rat astrocytoma C6 cells, non-differentiated and differentiated mouse 3T3 cells were kept in culture medium supplemented with 10% foetal calf serum. For competitive uptake experiments up to four different cell types, grown on glass sectors, were exposed for 3h to (14)C-labelled model compounds, dissolved either in organic solvents or incorporated into unilamellar lecithin liposomes. Bromo-, or chloro-benzenes, decabromodiphenylether (DBP), and dichlorodiphenyl ethylene (DDE) were tested in rather high concentration of 20 microM. Cellular toxicity was low. Compound levels were related to protein, DNA, and triglyceride contents. Cellular uptake was fast and dependent on physico-chemical properties of the compounds (lipophilicity, molecular size), formulation, and cell type. Mono-halogenated benzenes showed low and similar uptake levels (=low accumulation compounds). DBP and DDE showed much higher cellular accumulations (=high accumulation compounds) except for DBP in 3T3 cells. Uptake from liposomal formulations was mostly higher than if compounds were dissolved in organic solvents. The extent of uptake correlated with the cellular content of triglycerides, except for DBP. Uptake competition between different cell types was studied in a sectorial multi-cell culture model. For low accumulation compounds negligible differences were found among C6 cells and fibroblasts. Uptake of DDE was slightly and that of DBP highly increased in fibroblasts. Well-defined cell culture systems, especially the sectorial model, are appropriate to screen for bioaccumulation and cytotoxicity of (unknown) chemical entities in vitro.

Flow cytometry and FISH to measure the average length of telomeres (flow FISH)

Telomeres have emerged as crucial cellular elements in aging and various diseases including cancer. To measure the average length of telomere repeats in cells, we describe our protocols that use fluorescent in situ hybridization (FISH) with labeled peptide nucleic acid (PNA) probes specific for telomere repeats in combination with fluorescence measurements by flow cytometry (flow FISH). Flow FISH analysis can be performed using commercially available flow cytometers, and has the unique advantage over other methods for measuring telomere length of providing multi-parameter information on the length of telomere repeats in thousands of individual cells. The accuracy and reproducibility of the measurements is augmented by the automation of most pipetting (aspiration and dispensing) steps, and by including an internal standard (control cells) with a known telomere length in every tube. The basic protocol for the analysis of nucleated blood cells from 22 different individuals takes about 12 h spread over 2-3 days.

QUANTIFYING UNCERTAINTY IN GENOTYPE CALLS

Genome-wide association studies (GWAS) are used to discover genes underlying complex, heritable disorders for which less powerful study designs have failed in the past. The number of GWAS has skyrocketed recently with findings reported in top journals and the mainstream media. Mircorarrays are the genotype calling technology of choice in GWAS as they permit exploration of more than a million single nucleotide polymorphisms (SNPs)simultaneously. The starting point for the statistical analyses used by GWAS, to determine association between loci and disease, are genotype calls (AA, AB, or BB). However, the raw data, microarray probe intensities, are heavily processed before arriving at these calls. Various sophisticated statistical procedures have been proposed for transforming raw data into genotype calls. We find that variability in microarray output quality across different SNPs, different arrays, and different sample batches has substantial inuence on the accuracy of genotype calls made by existing algorithms. Failure to account for these sources of variability, GWAS run the risk of adversely affecting the quality of reported findings. In this paper we present solutions based on a multi-level mixed model. Software implementation of the method described in this paper is available as free and open source code in the crlmm R/BioConductor.

Dynamische Standsicherheit von Portalstaplern

Der Artikel beschreibt die Untersuchung der dynamischen Standsicherheit von Portalstaplern. Dazu wurde ein aktueller repräsentativer Portalstapler analysiert und in ein Mehrkörper-Simulationsmodell abgebildet. Die Validierung des Modells erfolgte auf Basis von Messfahrten am realen System. Aus den durchgeführten Simulationsstudien wurden technische Verbesserungsmaßnahmen abgeleitet, welche die dynamische Standsicherheit von Portalstaplern erhöhen.

Erfahrbares Programmieren durch den zielgerichten Einsatz von Flugdrohnen im Informatikunterricht

Informatik- und insbesondere Programmierunterricht sind heute ein wichtiger Bestandteil der schulischen Ausbildung. Vereinfachte Entwicklungsumgebungen, die auf die Abstraktion typischer Programmierkonzepte in Form von grafischen Bausteinen setzen, unterstützen diesen Trend. Zusätzliche Attraktivität wird durch die Verwendung exotischer Laufzeitumgebungen (z. B. Roboter) geschaffen. Die in diesem Paper vorgestellte Plattform “ScratchDrone” führt ergänzend zu diesen Angeboten eine moderne Flugdrohne als innovative Laufzeitumgebung für Scratch-Programme ein. Die Programmierung kann dabei dank modularer Systemarchitektur auf verschiedenen Abstraktionsebenen erfolgen, abhängig vom Lernfortschritt der Schüler. Kombiniert mit einem mehrstufigen didaktischen Modell, der Herausforderung der Bewegung im 3D-Raum sowie der natürlichen menschlichen Faszination für das Fliegen wird so eine hohe Lernmotivation bei jungen Programmieranfängern erreicht.