W. Richard McCombie
Professor
Ph.D., University of Michigan, 1982
Human genetics; human genome variation; personal genomics; genetics of psychiatric disorders; genetics of cancer, computational molecular biology
email This e-mail address is being protected from spambots. You need JavaScript enabled to view it , phone (516) 422-4083, fax (516) 422-4109

It has been known for some time that cognitive disorders have a strong genetic component. However, their complex genetics has made them relatively refractory to understanding until recently. The ability to effectively identify virtually every variant in a human genome has made it practical to study families or groups of individuals with these disorders and systematically correlate their individual genetic variants with their disease state. Likewise, we look at the progression of cells from the normal to malignant state at the resolution of each base in the genome. In addition to these human genetics programs we have ongoing studies in the evolution of plant genomes and in developing new ways to study genome structure and variation.
Please visit Dick's Lab home page.
Selected Publications
Parla, J.S., Iossifov, I., Grabill,. I.,Spector, M.S., Kramer, M., and McCombie. W.R. A comparative analysis of exome capture. 2011. Genome Biol. 12: R97.
Molaro, A., Hodges, E., Fang, F., Song, Q., McCombie, W.R., Hannon, G.J., et al. Sperm methylation profiles reveal features of epigenetic inheritance and evolution in primates. Cell 2011. 146: 1029–1041.
Navin, N., Kendall, J., Troge, J., Andrews, P., Rodgers, L., McIndoo, J., et al. 2011.Tumour evolution inferred by single-cell sequencing. Nature 472: 90–94.
Hodges, E., Xuan, Z., Balija, V., Kramer, M., Molla, M.N., Smith. S.W., et al. 2007. Genome-wide in situ exon capture for selective resequencing. Nat. Genet. 39:1522–1527.Lander, E.S., Linton, L.M., Birren, B., Nusbaum, C., Zody, M.C., Baldwin, J., et al. Initial sequencing and analysis of the human genome. 2001. Nature 409: 860–921.