Identification of Genomic Variants Associated with Adolescent Idiopathic Scoliosis (AIS) in French-Canadian Population

La scoliose idiopathique est une déformation tridimensionnelle de la colonne vertébrale dont la pathogenèse reste obscure. Cette maladie affecte 2-4% des adolescents de 10-18 ans parmi les garçons et les filles. Il est à noter que les filles sont plus sévèrement affectées et ce en plus grand nombre que les garçons. Les études de jumeaux ont montré que les facteurs génétiques jouent un rôle important dans la scoliose idiopathique de l'adolescent (SIA). Depuis 2010, les études d'association pan génomiques ont été multipliées dans les recherches, visant à trouver des gènes candidats impliqués dans la SIA à travers des examens des polymorphismes nucléotidiques (SNPs). Un test génétique nommé "ScoliScore" a été publié pour essayer de prédire la progression de courbure dans la population caucasienne. Cependant, l'association n'a pas été reproduite dans une grande étude japonaise, soulignant l'importance d'une étude de réplication dans une population caucasienne indépendante. Dans ce contexte, mon projet de maîtrise a permis de génotyper plus de 1,4 millions de SNPs dans une cohorte canadienne-française dans le but: 1) de valider l'association de ScoliScoreTM; et 2) d’identifier les variants génomiques associées à la SIA dans la population québécoise. Notre étude a montré qu’aucun des variants constituant le test ScoliScoreTM n’était associé à la SIA. Ceci suggère que l'absence d'association dans une cohorte japonaise n'est pas due à l'appartenance ethnique. Aussi, nous avons identifié des variants génomiques associés significativement à l’initiation et/ou la progression de SIA dans la population québécoise, suggérant des gènes candidats impliqués dans la pathogenèse de SIA.

Impact of Information Communication Technology (ICT) on Professional Development and Educational Needs of Library Professionals in the Universities of Kerala

The shift from print to digital information has a high impact on all components of the academic library system in India especially the users, services and the staff. Though information is considered as an important resource, the use of ICT tools to collect and disseminate information has been in a slow pace in majority of the University libraries This may be due to various factors like insufficient funds, inadequate staff trained in handling computers and software packages, administrative concerns etc. In Kerala, automation has been initiated in almost all University libraries using library automation software and is under different stages of completion. There are not much studies conducted about the effects of information communication technologies on the professional activities of library professionals in the universities in Kerala. It is important to evaluate whether progress in ICT has had any impact on the library profession in these highest educational institutions. The aim of the study is to assess whether the developments in information communication technologies have any influence on the library professionals’ professional development, and the need for further education and training in the profession and evaluate their skills in handling developments in ICT. The total population of the study is 252 including the permanently employed professional library staff in central libraries and departmental libraries in the main campuses of the universities under study. This is almost a census study of the defined population of users. The questionnaire method was adopted for collection of data for this study, supplemented by interviews of Librarians to gather additional information. Library Professionals have a positive approach towards ICT applications and services in Libraries, but majority do not have the opportunities to develop their skills and competencies in their work environment. To develop competitive personnel in a technologically advanced world, high priority must be given to develop competence in ICT applications, library management and soft skills in library professionals, by the University administrators and Library associations. Library science schools and teaching departments across the country have to take significant steps to revise library science curriculum, and incorporate significant changes to achieve the demands and challenges of library science profession.

A study of the information seeking bebavior of science and technology teachers and researchers of Cocbin University of Science and Technology and University of Kerala in the cbanged library environment

Information communication technology (IC T) has invariably brought about fundamental changes in the way in which libraries gather. preserve and disseminate information. The study was carried out with an aim to estimate and compare the information seeking behaviour (ISB) of the academics of two prominent universities of Kerala in the context of advancements achieved through ICT. The study was motivated by the fast changing scenario of libraries with the proliferation of many high tech products and services. The main purpose of the study was to identify the chief source of information of the academics, and also to examine academics preference upon the form and format of information source. The study also tries to estimate the adequacy of the resources and services currently provided by the libraries.The questionnaire was the central instrument for data collection. An almost census method was adopted for data collection engaging various methods and tools for eliciting data.The total population of the study was 957, out of which questionnaire was distributed to 859 academics. 646 academics responded to the survey, of which 564 of them were sound responses. Data was coded and analysed using Statistical Package for Social Sciences (SPSS) software and also with the help of Microsofl Excel package. Various statistical techniques were engaged to analyse data. A paradigm shift is evident by the fact that academies push themselves towards information in internet i.e. they prefer electronic source to traditional source and the very shift is coupled itself with e-seeking of information. The study reveals that ISB of the academics is influenced priman'ly by personal factors and comparative analysis shows that the ISB ofthc academics is similar in both universities. The productivity of the academics was tested to dig up any relation with respect to their ISB, and it is found that productivity of the academics is extensively related with their ISB. Study also reveals that the users ofthe library are satisfied with the services provided but not with the sources and in conjunction, study also recommends ways and means to improve the existing library system.

Marketing of Library Services in an Academic Environment

Marketing of information services is now an important goal of librarians all over the ~orld t? attract mor~ users to the libr~ry. thereby promoting user satisfaction. Marketing IS considered ~s ~n Integr~1 part of libraries and information centres mainly due to the developments In information t.echnology, information explosion, and declining library budgets. Kotler defines marketing as the "analysis, planning, implementation and control o~ carefully formulated programs designed to bring about voluntary exchanges of values WIth target markets fo~ the ~~rpos~ of~chievingorganizational objectives". Organizations suc.h as museums, unrversittes, libraries, and charities need to market their causes and their products to gain. political and social support as well as economic support (Kotler, 1995). In the marketing world people are now migrating from the traditional Four P ~lodelto th~ S~VE mode! (Alt~ns~n, 2013). According to the SAVE model, marketing III an orgarusanon must grve pnonty to 'Solutions' instead of the features or functions of~he.'Product" Similarily it is to focus on 'Access', instead of ,Place'; 'Value' instead of Price" so that the benefits are more stressed, rather than production costs. Instead of :Proliloti.on', marketi~g has. to conc~ntrate on 'Educating' the customers, providing lJlfo~mahol~ about t~eJr specific req~lrements, instead of relying on advertising, public rel~tlons, direct selling etc. From a library point ofview, to ensure maximum utilization of library ~ervices there is an increasing need for definite marketing plans to exploit the techn.ologlcal dcvelop",len~s so ~s to entice the users. By anticipating their changing needs and ~y co.mmulllcatl~g WIth them it should be possible to devise strategies to present various library services and products in a perceptive style.

Development of a Fully Automated Image Analysis Method for High Density cDNA and array CGH Microarray Based Genomic Studies

In this thesis, different techniques for image analysis of high density microarrays have been investigated. Most of the existing image analysis techniques require prior knowledge of image specific parameters and direct user intervention for microarray image quantification. The objective of this research work was to develop of a fully automated image analysis method capable of accurately quantifying the intensity information from high density microarrays images. The method should be robust against noise and contaminations that commonly occur in different stages of microarray development.

Impact of ICT on Library and Information Science: Major Shifts and Practices in CUSAT Central Library

Information is knowledge, facts or data. For the purpose of enabling the users to assimilate information, it should be repacked. Knowledge becomes information when it is externalized i.e. put in to the process of communication. The effectiveness of communication technology depends how well it provides its clients with information rapidly, economically and authentically. A large number of ICT enabled services including OPAC; e-resources etc. are available in the university library. Studies have been done to find the impact of ICT on different sections of CUSAT library by observing the activities of different sections; discussions with colleagues and visitors; and analyzing the entries in the library records. The results of the studies are presented here in the form of a paper.

Professional Development of Academic Library Professionals in Kerala

The paper aims to bring out the problems and prospects of the professional development opportunities of academic library professionals in the Universities in Kerala. The study is a part of research undertaken to survey the professional development activities and educational needs of library professionals in the major Universities of Kerala because of the developments in Information communication technology. The study recommends methods for improving the knowledge/skills of library professionals. The aim of the study is to evaluate the professional development activities of Library professionals and their attitude towards continuing education programmes. In order to achieve the objectives of the study a survey was conducted with the help of structured questionnaires distributed to 203 library professionals in seven major universities in Kerala, (South India) of which 185 questionnaires were returned. Results of the analysis show that majority of the professionals have pursued higher degrees in library science or IT allied courses after entering the profession, and that they have a positive attitude towards participation in training programmes and workshops. The results show that developments in ICT have a positive influence on majority of library professionals‘ attitude towards continuing education programmes.

Catalogue Interfaces of Integrated Library Management Systems (ILMS): Experiences in a Proprietary and Open Source Software

The Central Library of Cochin University of Science and Technology (CUSAT) has been automated by proprietary software (Adlib Library) since 2000. After 11 years, in 2011, the university authorities decided to shift to an open source software (OSS), for integrated library management system (ILMS), Koha for automating the library housekeeping operations. In this context, this study attempts to share the experiences in cataloging with both type of software. The features of the cataloging modules of both the software are analysed on the badis of certain check points. It is found that the cataloging module of Koha is almost in par with that of proven proprietary software that has been in market for the past 25 years. Some suggestions made by this study may be incorporated for the further development and perfection of Koha.

Use of Online Information Resources for Knowledge Organisation in Library and Information Centres: A Case Study of CUSAT

The paper discusses the use of online information resources for organising knowledge in library and information centres in Cochin University of Science and Technology (CUSAT). The paper discusses the status and extent of automation in CUSAT library. The use of different online resources and the purposes for which these resources are being used, is explained in detail. Structured interview method was applied for collecting data. It was observed that 67 per cent users consult online resources for assisting knowledge organisation. Library of Congress catalogue is the widely used (100 per cent) online resource followed by OPAC of CUSAT and catalogue of British Library. The main purposes for using these resources are class number building and subject indexing

Enlarging a training set for genomic selction by imputation of un-genotyped animals in populations of varying genetic architecture

Background: The most common application of imputation is to infer genotypes of a high-density panel of markers on animals that are genotyped for a low-density panel. However, the increase in accuracy of genomic predictions resulting from an increase in the number of markers tends to reach a plateau beyond a certain density. Another application of imputation is to increase the size of the training set with un-genotyped animals. This strategy can be particularly successful when a set of closely related individuals are genotyped. ----- Methods: Imputation on completely un-genotyped dams was performed using known genotypes from the sire of each dam, one offspring and the offspring’s sire. Two methods were applied based on either allele or haplotype frequencies to infer genotypes at ambiguous loci. Results of these methods and of two available software packages were compared. Quality of imputation under different population structures was assessed. The impact of using imputed dams to enlarge training sets on the accuracy of genomic predictions was evaluated for different populations, heritabilities and sizes of training sets. ----- Results: Imputation accuracy ranged from 0.52 to 0.93 depending on the population structure and the method used. The method that used allele frequencies performed better than the method based on haplotype frequencies. Accuracy of imputation was higher for populations with higher levels of linkage disequilibrium and with larger proportions of markers with more extreme allele frequencies. Inclusion of imputed dams in the training set increased the accuracy of genomic predictions. Gains in accuracy ranged from close to zero to 37.14%, depending on the simulated scenario. Generally, the larger the accuracy already obtained with the genotyped training set, the lower the increase in accuracy achieved by adding imputed dams. ----- Conclusions: Whenever a reference population resembling the family configuration considered here is available, imputation can be used to achieve an extra increase in accuracy of genomic predictions by enlarging the training set with completely un-genotyped dams. This strategy was shown to be particularly useful for populations with lower levels of linkage disequilibrium, for genomic selection on traits with low heritability, and for species or breeds for which the size of the reference population is limited.

An R Library for Compositional Data Analysis in Archaeometry

Compositional data naturally arises from the scientific analysis of the chemical composition of archaeological material such as ceramic and glass artefacts. Data of this type can be explored using a variety of techniques, from standard multivariate methods such as principal components analysis and cluster analysis, to methods based upon the use of log-ratios. The general aim is to identify groups of chemically similar artefacts that could potentially be used to answer questions of provenance. This paper will demonstrate work in progress on the development of a documented library of methods, implemented using the statistical package R, for the analysis of compositional data. R is an open source package that makes available very powerful statistical facilities at no cost. We aim to show how, with the aid of statistical software such as R, traditional exploratory multivariate analysis can easily be used alongside, or in combination with, specialist techniques of compositional data analysis. The library has been developed from a core of basic R functionality, together with purpose-written routines arising from our own research (for example that reported at CoDaWork'03). In addition, we have included other appropriate publicly available techniques and libraries that have been implemented in R by other authors. Available functions range from standard multivariate techniques through to various approaches to log-ratio analysis and zero replacement. We also discuss and demonstrate a small selection of relatively new techniques that have hitherto been little-used in archaeometric applications involving compositional data. The application of the library to the analysis of data arising in archaeometry will be demonstrated; results from different analyses will be compared; and the utility of the various methods discussed

Hartley Library tour

Audio recording of a Hartley Library tour for the academic session 2007/2008. Voices of a nursing student and Mike Weaver, School of Nursing & Midwifery.

Biomedical Sciences Library tour

Audio recording of a tour of the Biomedical Sciences Library at the Boldrewood Campus for the academic session 2007-2008. Voices of 2 students from the School of Biological Sciences.