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).

Predictive models for chronic renal disease using decision trees, naïve bayes and case-based methods

Data mining can be used in healthcare industry to “mine” clinical data to discover hidden information for intelligent and affective decision making. Discovery of hidden patterns and relationships often goes intact, yet advanced data mining techniques can be helpful as remedy to this scenario. This thesis mainly deals with Intelligent Prediction of Chronic Renal Disease (IPCRD). Data covers blood, urine test, and external symptoms applied to predict chronic renal disease. Data from the database is initially transformed to Weka (3.6) and Chi-Square method is used for features section. After normalizing data, three classifiers were applied and efficiency of output is evaluated. Mainly, three classifiers are analyzed: Decision Tree, Naïve Bayes, K-Nearest Neighbour algorithm. Results show that each technique has its unique strength in realizing the objectives of the defined mining goals. Efficiency of Decision Tree and KNN was almost same but Naïve Bayes proved a comparative edge over others. Further sensitivity and specificity tests are used as statistical measures to examine the performance of a binary classification. Sensitivity (also called recall rate in some fields) measures the proportion of actual positives which are correctly identified while Specificity measures the proportion of negatives which are correctly identified. CRISP-DM methodology is applied to build the mining models. It consists of six major phases: business understanding, data understanding, data preparation, modeling, evaluation, and deployment.

Teaching grammar: A study of the common English grammar errors and grammar teaching methods that can be relevant for Swedish upper secondary schools

Grammar has always been an important part of language learning. Based on various theories, such as the universal grammar theory (Chomsky, 1959) and, the input theory (Krashen, 1970), the explicit and implicit teaching methods have been developed. Research shows that both methods may have some benefits and disadvantages. The attitude towards English grammar teaching methods in schools has also changed and nowadays grammar teaching methods and learning strategies, as a part of language mastery, are one of the discussion topics among linguists. This study focuses on teacher and learner experiences and beliefs about teaching English grammar and difficulties learners may face. The aim of the study is to conduct a literature review and to find out what scientific knowledge exists concerning the previously named topics. Along with this, the relevant steering documents are investigated focusing on grammar teaching at Swedish upper secondary schools. The universal grammar theory of Chomsky as well as Krashen’s input hypotheses provide the theoretical background for the current study. The study has been conducted applying qualitative and quantitative methods. The systematic search in four databases LIBRIS, ERIK, LLBA and Google Scholar were used for collecting relevant publications. The result shows that scientists’ publications name different grammar areas that are perceived as problematic for learners all over the world. The most common explanation of these difficulties is the influence of learner L1. Research presents teachers’ and learners’ beliefs to the benefits of grammar teaching methods. An effective combination of teaching methods needs to be done to fit learners’ expectations and individual needs. Together, they will contribute to the achieving of higher language proficiency levels and, therefore, they can be successfully applied at Swedish upper secondary schools.