The development of a database and bioinformatics applications for the investigation of immune genes



Gonzalez Galarza, Faviel
The development of a database and bioinformatics applications for the investigation of immune genes. Doctor of Philosophy thesis, University of Liverpool.

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Abstract

The extensive allelic variability observed in several genes related to the immune response and its significance in transplantation, disease association studies and diversity in human populations has led the scientific community to analyse these variants among individuals. This thesis is focussed on the development of a database and software applications for the investigation of several immune genes and the frequencies of their corresponding alleles in worldwide human populations. The approach presented in this thesis includes the design of a relational database, a web interface, the design of models for data exchange and the development of online searching mechanisms for the analysis of allele, haplotype and genotype frequencies. At present, the database contains data from more than 1000 populations covering more than four million unrelated individuals. The repertory of datasets available in the database encompasses different polymorphic regions such as Human Leukocyte Antigens (HLA), Killer-cell Immunoglobulin-like Receptors (KIR), Major histocompatibility complex Class I chain-related (MIC) genes and a number of cytokine gene polymorphisms. The work presented in this document has been shown to be a valuable resource for the medical and scientific societies. Acting as a primary source for the consultation of immune gene frequencies in worldwide populations, the database has been widely used in a variety of contexts by scientists, including histocompatibility, immunology, epidemiology, pharmacogenetics and population genetics among many others. In the last year (August 2010 to August 2011), the website was accessed by 15,784 distinct users from 2,758 cities in 136 countries and has been cited in 168 peer-reviewed publications demonstrating its wide international use.

Item Type: Thesis (Doctor of Philosophy)
Additional Information: Date: 2011-09 (completed)
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Divisions: Faculty of Health and Life Sciences
Depositing User: Symplectic Admin
Date Deposited: 07 Aug 2012 10:50
Last Modified: 16 Dec 2022 04:36
DOI: 10.17638/00004973
Supervisors:
URI: https://livrepository.liverpool.ac.uk/id/eprint/4973