Issues in Statistical Genetics and Statistical Genomics
Nicholas J. Schork, Ph.D.
Polymorphism Research Laboratory, Department of Psychiatry, UCSD
There is a fundamental difference between research questions relating to genetics and those relating to genomics . Genetics research questions focus on inheritance and the algebraic laws (such as Mendel's laws) that govern the transmission of chromosomes (and therefore genes) from parents to offspring. In contrast to research questions in genetics, research questions in genomics focus on the structure, molecular impact (e.g., expression patterns), and evolution (e.g., conservation and homology) of genes. The inference and statistical modeling questions that arise in genetics research are therefore in some sense distinct from those that arise in genomics. Two lectures describing statistical issues in genetics and genomics will be given. The first lecture will focus on questions relating to genetics and will focus on gene discovery via the meiotic or recombination mapping paradigm. The motivation for the 'second generation Human Genome Project' known as the 'International Haplotype Map Initiative' will be discussed as will concepts in haplotype analysis generally. The second lecture will focus on inference issues in genomics, which an emphasis on making sense of massive amounts of data that arise in the use of technologies such as gene expression microarrays. Both lectures will emphasize the need for the integration of results and studies investigating phenomena at all levels of the physiological and evolutionary hierarchy from DNA sequence to phenotypic expression to the selection and evolution of genomes. |
