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Developing the theory of multi-allelic, multi-genic risk for common diseases and devising instrumentation to perform pangenomic exonic scans using appropriately large cohorts to identify the genes carrying inherited risk for each common disease. This includes identification of genes in which somatic mutations are required for carcinogenesis or artherogenesis.
This section contains PDF copies of two papers, Tomita-Mitchell et al. 1998, and Morgenthaler and Thilly, 2007, in which the expected multi-allelic inherited risk for common diseases in human populations is argued to create a confounding factor that would defeat the widespread applications of gene-disease association based on linkage disequilibrium studies.
In the latter paper, a straightforward statistical model is presented for analyzing gene-association studies based on measuring the differences in the frequencies of all point mutations in large case and control cohorts.
This section also incorporates PDF copies of publications outlining the development and application of instruments and methods for scanning exonic sequences of the genome in large human populations, which are argued to be sufficient to economically discover most true gene-disease associations.
Under construction.
