Cold Spring Harbor Laboratory  
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Ph.D., University of Michigan, 1982

Human genetics; human genome variation; personal genomics; genetics of psychiatric disorders; genetics of cancer, computational molecular biology

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One of the most exciting areas of research to arise from genomics is the role of sequence variation among individuals of the same species in determining their phenotype in areas as disparate as behavior and susceptibility to diseases.The completion of the human genome reference and new techniques and instruments that have just become available have changed the way that we do human genetics. The availability of instruments that allow a small number of people to generate 100s of billions of bases of sequence data a day now makes possible human genetics at the nucleotide level of resolution.Our particular focus in on the role of genomic variation in causing two major disease classes, cognitive disorders(such as schizophrenia) and bipolar disorder and cancer.

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.


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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 Biol12: 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.