Dissection of the Human Genome using Single Nucleotide Polymorphisms

Abstract

In the post-genome era, data for large numbers of single nucleotide polymorphisms (SNPs) in human have become available to assist with unraveling the genetic background of populations and etiological mechanisms of complex disorders and cancers. In this talk, a summary of our recent accomplishments in genetic/genomic statistics based on analyses of SNP genotypes and hybridization intensities will be presented. These studies include quality control of SNP arrays, population genetics, pooled DNA analysis, disease gene association mapping, and detection of chromosomal aberrations. Specifically, I’m going to present genomic studies where we investigated genetic background in general populations as well studies where we identified disease susceptibility genes for rheumatoid arthritis (a type of complex autoimmune disease) and acute lymphoblastic leukaemia (a type of common childhood cancer) through long stretches of homozygous runs. With close collaborations with biologists and statisticians, we expect that the statistical tools developed and the biological findings from our interdisciplinary studies will enhance understanding of complex etiologies, and may facilitate the development of prognostic genetic markers and targeted therapies in the future.?