Fine mapping and replication of QTL in outbred chicken advanced intercross lines

Background: Linkage mapping is used to identify genomic regions affecting the expression of complex traits. However, when experimental crosses such as F2 populations or backcrosses are used to map regions containing a Quantitative Trait Locus (QTL), the size of the regions identified remains quite large, i.e. 10 or more Mb. Thus, other experimental strategies are needed to refine the QTL locations. Advanced Intercross Lines (AIL) are produced by repeated intercrossing of F2 animals and successive generations, which decrease linkage disequilibrium in a controlled manner. Although this approach is seen as promising, both to replicate QTL analyses and fine-map QTL, only a few AIL datasets, all originating from inbred founders, have been reported in the literature. Methods: We have produced a nine-generation AIL pedigree (n = 1529) from two outbred chicken lines divergently selected for body weight at eight weeks of age. All animals were weighed at eight weeks of age and genotyped for SNP located in nine genomic regions where significant or suggestive QTL had previously been detected in the F2 population. In parallel, we have developed a novel strategy to analyse the data that uses both genotype and pedigree information of all AIL individuals to replicate the detection of and fine-map QTL affecting juvenile body weight. Results: Five of the nine QTL detected with the original F2 population were confirmed and fine-mapped with the AIL, while for the remaining four, only suggestive evidence of their existence was obtained. All original QTL were confirmed as a single locus, except for one, which split into two linked QTL. Conclusions: Our results indicate that many of the QTL, which are genome-wide significant or suggestive in the analyses of large intercross populations, are true effects that can be replicated and fine-mapped using AIL. Key factors for success are the use of large populations and powerful statistical tools. Moreover, we believe that the statistical methods we have developed to efficiently study outbred AIL populations will increase the number of organisms for which in-depth complex traits can be analyzed.

qtl.outbred: Interfacing outbred line cross data with the R/qtl mapping software

Background qtl.outbred is an extendible interface in the statistical environment, R, for combining quantitative trait loci (QTL) mapping tools. It is built as an umbrella package that enables outbred genotype probabilities to be calculated and/or imported into the software package R/qtl. Findings Using qtl.outbred, the genotype probabilities from outbred line cross data can be calculated by interfacing with a new and efficient algorithm developed for analyzing arbitrarily large datasets (included in the package) or imported from other sources such as the web-based tool, GridQTL. Conclusion qtl.outbred will improve the speed for calculating probabilities and the ability to analyse large future datasets. This package enables the user to analyse outbred line cross data accurately, but with similar effort than inbred line cross data.

Novel Statistical Methods in Quantitative Genetics : Modeling Genetic Variance for Quantitative Trait Loci Mapping and Genomic Evaluation

This thesis develops and evaluates statistical methods for different types of genetic analyses, including quantitative trait loci (QTL) analysis, genome-wide association study (GWAS), and genomic evaluation. The main contribution of the thesis is to provide novel insights in modeling genetic variance, especially via random effects models. In variance component QTL analysis, a full likelihood model accounting for uncertainty in the identity-by-descent (IBD) matrix was developed. It was found to be able to correctly adjust the bias in genetic variance component estimation and gain power in QTL mapping in terms of precision.  Double hierarchical generalized linear models, and a non-iterative simplified version, were implemented and applied to fit data of an entire genome. These whole genome models were shown to have good performance in both QTL mapping and genomic prediction. A re-analysis of a publicly available GWAS data set identified significant loci in Arabidopsis that control phenotypic variance instead of mean, which validated the idea of variance-controlling genes.  The works in the thesis are accompanied by R packages available online, including a general statistical tool for fitting random effects models (hglm), an efficient generalized ridge regression for high-dimensional data (bigRR), a double-layer mixed model for genomic data analysis (iQTL), a stochastic IBD matrix calculator (MCIBD), a computational interface for QTL mapping (qtl.outbred), and a GWAS analysis tool for mapping variance-controlling loci (vGWAS).

MAPfastR : quantitative trait loci mapping in outbred line crosses

MAPfastR is a software package developed to analyze QTL data from inbred and outbred line-crosses. The package includes a number of modules for fast and accurate QTL analyses. It has been developed in the R language for fast and comprehensive analyses of large datasets. MAPfastR is freely available at: http://www.computationalgenetics.se/?page_id=7.

Pedagogical methods in web-based language teaching-mapping

The purpose of this presentation is to introduce the research project progress in “the mapping of pedagogical methods in web-based language teaching" by Högskolan Dalarna (Dalarna University). This project will identify the differences in pedagogical methods that are used for online language classes. The pedagogical method defined in this project is what the teachers do to ensure students attain the learning outcomes, for example, planning, designing courses, leading students, knowing students' abilities, implementing activities, etc. So far the members of this project have analyzed the course plans (in the language department at Dalarna University) and categorized the learning outcomes. A questionnaire was constructed based on the learning outcomes and then either sent out remotely to teachers or completed face to face through interviews. The answers provided to the questionnaires enabled the project to identify many differences in how language teachers interact with their students but also, the way of giving feedback, motivating and helping students, types of class activities and materials used. This presentation introduces the progress of the project and identifies the challenges at the language department at Dalarna University. Finally, the advantages and problems of online language proficiency courses will be discussed and suggestions made for future improvement.

PokerMapper: : mapping executive functions, poker playing ability and responsible gambling in online environments

Research objectives Poker and responsible gambling both entail the use of the executive functions (EF), which are higher-level cognitive abilities. The main objective of this work was to assess if online poker players of different ability show different performances in their EF and if so, which functions are the most discriminating ones. The secondary objective was to assess if the EF performance can predict the quality of gambling, according to the Gambling Related Cognition Scale (GRCS), the South Oaks Gambling Screen (SOGS) and the Problem Gambling Severity Index (PGSI). Sample and methods The study design consisted of two stages: 46 Italian active players (41m, 5f; age 32±7,1ys; education 14,8±3ys) fulfilled the PGSI in a secure IT web system and uploaded their own hand history files, which were anonymized and then evaluated by two poker experts. 36 of these players (31m, 5f; age 33±7,3ys; education 15±3ys) accepted to take part in the second stage: the administration of an extensive neuropsychological test battery by a blinded trained professional. To answer the main research question we collected all final and intermediate scores of the EF tests on each player together with the scoring on the playing ability. To answer the secondary research question, we referred to GRCS, PGSI and SOGS scores.  We determined which variables that are good predictors of the playing ability score using statistical techniques able to deal with many regressors and few observations (LASSO, best subset algorithms and CART). In this context information criteria and cross-validation errors play a key role for the selection of the relevant regressors, while significance testing and goodness-of-fit measures can lead to wrong conclusions.   Preliminary findings We found significant predictors of the poker ability score in various tests. In particular, there are good predictors 1) in some Wisconsin Card Sorting Test items that measure flexibility in choosing strategy of problem-solving, strategic planning, modulating impulsive responding, goal setting and self-monitoring, 2) in those Cognitive Estimates Test variables related to deductive reasoning, problem solving, development of an appropriate strategy and self-monitoring, 3) in the Emotional Quotient Inventory Short (EQ-i:S) Stress Management score, composed by the Stress Tolerance and Impulse Control scores, and in the Interpersonal score (Empathy, Social Responsibility, Interpersonal Relationship). As for the quality of gambling, some EQ-i:S scales scores provide the best predictors: General Mood for the PGSI; Intrapersonal (Self-Regard; Emotional Self-Awareness, Assertiveness, Independence, Self-Actualization) and Adaptability  (Reality Testing, Flexibility, Problem Solving) for the SOGS, Adaptability for the GRCS. Implications for the field Through PokerMapper we gathered knowledge and evaluated the feasibility of the construction of short tasks/card games in online poker environments for profiling users’ executive functions. These card games will be part of an IT system able to dynamically profile EF and provide players with a feedback on their expected performance and ability to gamble responsibly in that particular moment. The implementation of such system in existing gambling platforms could lead to an effective proactive tool for supporting responsible gambling. 

Genome-wide association mapping in a wild avian population identifies a link between genetic and phenotypic variation in a life-history trait

Understanding the genetic basis of traits involved in adaptation is a major challenge in evolutionary biology but remains poorly understood. Here, we use genome-wide association mapping using a custom 50 k single nucleotide polymorphism (SNP) array in a natural population of collared flycatchers to examine the genetic basis of clutch size, an important life-history trait in many animal species. We found evidence for an association on chromosome 18 where one SNP significant at the genome-wide level explained 3.9% of the phenotypic variance. We also detected two suggestive quantitative trait loci (QTLs) on chromosomes 9 and 26. Fitness differences among genotypes were generally weak and not significant, although there was some indication of a sex-by-genotype interaction for lifetime reproductive success at the suggestive QTL on chromosome 26. This implies that sexual antagonism may play a role in maintaining genetic variation at this QTL. Our findings provide candidate regions for a classic avian life-history trait that will be useful for future studies examining the molecular and cellular function of, as well as evolutionary mechanisms operating at, these loci.

Mapping land use in a large agricultural basin : a comparison between classification techniques

In order to facilitate the better management of river basin resources, the Glenelg-Hopkins region in south-east Australia required an accurate and up to date land use map. Land use has a major impact on Australia's natural resources including its soil, water, flora and fauna and plays a major role in determining basin health. Inappropriate land use and practices have contributed to extensive dryland salinity and water quality problems. Land use data is often required for environmental models and in most cases the reliability of model outputs is dependent on the spatial detail and accuracy of the land use mapping. This paper examines methods to obtain an up to date land use map and a detailed accuracy assessment using Landsat ETM+ data for a regional basin. A multi-source based approach allowed the collection of 4817 ground truth data points from the field investigation. This enabled researchers to (i) incorporate a full range of information into digital image analysis with significant improvements in accuracy and (ii) hold sufficient independent references for an accurate error assessment. Classification accuracy was significantly improved using a stratification design, in which the region is sub-divided into smaller homogenous areas as opposed to a full scene classification technique. The overall classification accuracy was 84% (KHAT= 0.833) for the stratified approach compared to 76% (KHAT= 0.743) for the full scene classification. Effective assessment, planning and management of basins are dependent on a sound knowledge of the distribution and variability of land use.

From local to national: aspects of mapping the welfare third sector in Australia

The paper charts the authors' research experiences in various types of sociological mapping ofc ommunity or third sector organisations. Specifically this was a search for a way of understanding how third sector organisations dealing with welfare issues were operating in Australia in the mid I990s.

The paper tells the story of how the researchers worked through the implications of being faced initially with a dearth of information about their subject and of how lessons were learnt about the disjunctions between what is formally given as textbook knowledge about research practice and what actually can and does happen: that is, the relationship between the theory and the practice of research.

In discussing the creation of a database of organisations, conducting focus groups and a national sample survey, the paper comments on some of the practical problems facing third sector researchers as well as looking at concept generation and typology building as analytical tools.

Mapping music education in Australia

Music education research in Australia has grown almost exponentially over the past 25 years. Particularly in the area of doctoral research studies, there has been a substantial increase in the number of theses completed from two in 1977 to 72 in 2002. In addition, there have been increases in professional research undertaken by university academics, in the number of nationally competitive research grants being awarded by the Australian Research Council and other research funding agencies, and in commissioned research studies. This article reviews the various types of music education research being undertaken in Australia and also discusses the dissemination of the findings of research through articles in national and international scholarly journals and papers presented at local and international conferences. One of the conclusions drawn is that Australian music education has ‘come of age’ in terms of both the quantity and the quality of its national research profile.

Multi-temporal land use mapping using remotely sensed techniques and the integration of a pollutant load model in a GIS

Estimation of nutrient load production based on multi-temporal remotely sensed land-use data for the Glenelg-Hopkins region in southwest Victoria, Australia, is discussed. Changes in land use were mapped using archived Landsat data and computerized classification techniques. Land-use
change is unparalleled in recent history, with 13% of the region transformed in the last decade. Total nitrogen and phosphorus loading were estimated using an export coefficient model. The analysis demonstrated a disturbing increase in nitrogen and phosphorus loadings from 1995 to 2002. Whilst such increases were suspected from past anecdotal and ad-hoc evidence, our modelling quantitatively estimated such increases and thus demonstrated the enormous potential of using remote sensing and GIS for monitoring land-use change and hence improve land-use management.

Hydrology or floristics? Mapping and classification of wetlands in Victoria, Australia, and implications for conservation planning

A national approach to the conservation of biodiversity in Australia’s freshwater ecosystems is a high priority. This requires a consistent and comprehensive system for the classification, inventory, and assessment of wetland ecosystems. This paper, using the State of Victoria as a case study, compares two classification systems that are commonly utilized to delineate and map wetlands—one based on hydrology (Victorian Wetland Database [VWD]) and one based on indigenous vegetation types and other natural features (Ecological Vegetation Classes [EVC]). We evaluated the extent of EVC mapping of wetlands relative to the VWD classification system using a number of datasets within a geographical information system. There were significant differences in the coverage of extant EVCs across bioregions, different-sized wetlands, and VWD wetland types. Resultant depletion levels were markedly different when examined using the two systems, with depletion levels, and therefore perceived conservation status, of EVCs being significantly higher. Although there is little doubt that many wetland ecosystems in Victoria are in fact threatened, the extent of this threat cannot accurately be determined by relying on the EVC mapping as it currently stands. The study highlighted the significant impact wetland classification methods have in determining the conservation status of freshwater ecosystems.

Mapping the hot deformation microstructure of Ni-30Fe alloy

The evolution of structure during the hot working of an austenitic Ni-30%Fe alloy is studied using EBSD analysis of samples tested in torsion. A microstructural map in temperature-strain space that plots grain size, cell size, fracture and dynamic recrystallization is presented.