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).

Pupils' Interaction with the Exhibits According to the Learning Behaviour Model

Science centres are one of the best opportunities for informal study of natural science. There are many advantages to learn in the science centres compared with the traditional methods: it is possible to motivate and supply visitors with the social experience, to improve people’s understandings and attitudes, thereby bringing on and attaching wider interest towards natural science. In the science centres, pupils show interest, enthusiasm, motivation, self-confidence, sensitiveness and also they are more open and eager to learn. Traditional school-classes however mostly do not favour these capabilities. This research presents the qualitative study in the science centre. Data was gathered from observations and interviews at Science North science centre in Canada. Pupils’ learning behaviours were studied at different exhibits in the science centre. Learning behaviours are classified as follows: labels reading, experimenting with the exhibits, observing others or exhibit, using guide, repeating the activity, positive emotional response, acknowledged relevance, seeking and sharing information. In this research, it became clear that in general pupils do not read labels; in most cases pupils do not use the guides help; pupils prefer exhibits that enable high level of interactivity; pupils display more learning behaviours at exhibits that enable a high level of interactivity.

Classification of Parkinson’s Disease using MultiPass Lvq,Logistic Model Tree,K-Star for Audio Data set : Classification of Parkinson Disease using Audio Dataset

Parkinson's disease (PD) is a degenerative illness whose cardinal symptoms include rigidity, tremor, and slowness of movement. In addition to its widely recognized effects PD can have a profound effect on speech and voice.The speech symptoms most commonly demonstrated by patients with PD are reduced vocal loudness, monopitch, disruptions of voice quality, and abnormally fast rate of speech. This cluster of speech symptoms is often termed Hypokinetic Dysarthria.The disease can be difficult to diagnose accurately, especially in its early stages, due to this reason, automatic techniques based on Artificial Intelligence should increase the diagnosing accuracy and to help the doctors make better decisions. The aim of the thesis work is to predict the PD based on the audio files collected from various patients.Audio files are preprocessed in order to attain the features.The preprocessed data contains 23 attributes and 195 instances. On an average there are six voice recordings per person, By using data compression technique such as Discrete Cosine Transform (DCT) number of instances can be minimized, after data compression, attribute selection is done using several WEKA build in methods such as ChiSquared, GainRatio, Infogain after identifying the important attributes, we evaluate attributes one by one by using stepwise regression.Based on the selected attributes we process in WEKA by using cost sensitive classifier with various algorithms like MultiPass LVQ, Logistic Model Tree(LMT), K-Star.The classified results shows on an average 80%.By using this features 95% approximate classification of PD is acheived.This shows that using the audio dataset, PD could be predicted with a higher level of accuracy.

A proposed Model for Country Branding : an experimental Application on Nigeria

In the era of globalization, countries compete with each other for attention, respect and trust of potential consumers, investors, tourists, media and governments of other nations. Branding is the most powerful tool that a nation can utilize for effective differentiation strategies and for creating competitive advantage over other nations. Unfortunately, not every nations or destination marketers have a broad understanding of the concept of branding and how a country can be successfully branded. Hence, this study has proposed a model that could be used as a valuable guide for country branding. Also the model is recommended for countries struggling with image crisis; on the mission to improve the image internationally. Nigeria is a good example of countries with image crisis; it is one of the most populated countries in the world with a population of about 160 million inhabitants and growth rate of 2.553percent annually. Despite the abundant resources (e.g. coal, petroleum, natural gas etc.) that the nation is endowed with, it is quite disappointing that the population below poverty line is still at the alarming rate of 70percent of the total population. The mismanagement and poor leadership of the nation characterised by corruption, fraud, embezzlement of public fund etc. has culminated into serious image crisis that is slowing down the potential for investment and economic growth. However, there has been series of image rebranding campaigns but no tangible achievement has been recorded. It is quite questionable though, if image rebranding will provide the kind of future that Nigeria envisaged, considering the socio-political situation and the economic imbalance; compounded by the obvious fact that the nation has no known brand. Therefore, this paper argues that there is need to redirect the effort invested on image rebranding to the creation of a unique and competitive brand for the country. It was established from the study that a nation’s brand is capable of improving the reputation of the nation as well as stimulate the expectation of the target audience. However, it was also established from the study that a wrong approach to branding could mislead the target audience and attract negative publicity. Hence, as a contribution of the study to the field of branding, a model was proposed as a functional guide for country branding. Also, considering the abysmal performance of Nigeria’s image in the international community and to strengthen the argument that brand creation is required for the country; an experimental application of the proposed model was conducted using Nigeria as the case country. The first phase of the model suggested a major improvement in the society; this is required to further enhance the strengths of the country and to motivate the much needed community participation and confidence in the brand creation. It is the conclusion of the study that a strong nation brand can offset the image problem if it is built on something concrete, genuine, and uniquely identifiable with the country, capable of connecting to the cognitive psychology of the target audience.

The effects of attitudes and personality traits on mode choice

We hypothesise that differences in people's attitudes and personality traits lead them to attribute varying importance to environmental considerations, safety, comfort, convenience and flexibility. Differences in personality traits call be revealed not only in the individuals' choice of transport, but also in other actions of their everyday lives-such as how much they recycle, whether they take precautions or avoid dangerous pursuits. Conditioning on a set of exogenous individual characteristics, we use indicators of attitudes and personality traits to form latent variables for inclusion in an, otherwise standard, discrete mode choice model. With a sample of Swedish commuters, we find that both attitudes towards flexibility and comfort, as well as being pro-environmentally inclined, influence the individual's choice of mode. Although modal time and cost still are important, it follows that there are other ways, apart from economic incentives, to attract individuals to the, from society's perspective, desirable public modes of transport. Our results should provide useful information to policy-makers and transportation planners developing sustainable transportation systems.

Likelihood estimate of treatment effects under selection bias

We consider methods for estimating causal effects of treatment in the situation where the individuals in the treatment and the control group are self selected, i.e., the selection mechanism is not randomized. In this case, simple comparison of treated and control outcomes will not generally yield valid estimates of casual effects. The propensity score method is frequently used for the evaluation of treatment effect. However, this method is based onsome strong assumptions, which are not directly testable. In this paper, we present an alternative modeling approachto draw causal inference by using share random-effect model and the computational algorithm to draw likelihood based inference with such a model. With small numerical studies and a real data analysis, we show that our approach gives not only more efficient estimates but it is also less sensitive to model misspecifications, which we consider, than the existing methods.

Likelihood prediction for generalized linear mixed models under covariate uncertainty

This paper presents the techniques of likelihood prediction for the generalized linear mixed models. Methods of likelihood prediction is explained through a series of examples; from a classical one to more complicated ones. The examples show, in simple cases, that the likelihood prediction (LP) coincides with already known best frequentist practice such as the best linear unbiased predictor. The paper outlines a way to deal with the covariate uncertainty while producing predictive inference. Using a Poisson error-in-variable generalized linear model, it has been shown that in complicated cases LP produces better results than already know methods.

Swedish translation and psychometric testing of the safety attitudes questionnaire (operating room version)

Background: Tens of millions of patients worldwide suffer from avoidable disabling injuries and death every year. Measuring the safety climate in health care is an important step in improving patient safety. The most commonly used instrument to measure safety climate is the Safety Attitudes Questionnaire (SAQ). The aim of the present study was to establish the validity and reliability of the translated version of the SAQ. Methods: The SAQ was translated and adapted to the Swedish context. The survey was then carried out with 374 respondents in the operating room (OR) setting. Data was received from three hospitals, a total of 237 responses. Cronbach's alpha and confirmatory factor analysis (CFA) was used to evaluate the reliability and validity of the instrument. Results: The Cronbach's alpha values for each of the factors of the SAQ ranged between 0.59 and 0.83. The CFA and its goodness-of-fit indices (SRMR 0.055, RMSEA 0.043, CFI 0.98) showed good model fit. Intercorrelations between the factors safety climate, teamwork climate, job satisfaction, perceptions of management, and working conditions showed moderate to high correlation with each other. The factor stress recognition had no significant correlation with teamwork climate, perception of management, or job satisfaction. Conclusions: Therefore, the Swedish translation and psychometric testing of the SAQ (OR version) has good construct validity. However, the reliability analysis suggested that some of the items need further refinement to establish sound internal consistency. As suggested by previous research, the SAQ is potentially a useful tool for evaluating safety climate. However, further psychometric testing is required with larger samples to establish the psychometric properties of the instrument for use in Sweden.