Dissecting genetic risk in common and rare inherited disorders

Susceptibility to the majority of human disease is to a varying extent determined by genetic alterations in an individual’s genome. This implies that the identification of genetic factors that predispose to human disease is important as it enables genetic testing that may contribute to diagnosis, risk stratification and prevention, and may provide inroads for the study of disease mechanisms. Developments in genomic technologies and the increased understanding of the nature of genetic variation in humans provide unprecedented opportunities for the discovery of genetic variation underlying inherited disorders. This thesis has utilized these developments to uncover genetic factors that determine susceptibility to a variety of common multifactorial traits and rare Mendelian disorders.