 |
 |
Diagram of DNA sequence from the human genome shows exon structure and other features such as EST (expressed sequence tag) matches and repetitive elements.
Diagram of DNA sequence from the human genome shows exon structure and other features such as EST (expressed sequence tag) matches and repetitive elements. |
|
|
W. Richard McCombie Professor Ph.D., University of Michigan, 1982 Genome structure; human sequence variation; schizophrenia; cancer; computational molecular biology; Human Genome Project email mccombie@cshl.edu, phone (516) 422-4083, fax (516) 422-4109
With the completion of the human genome reference sequence we are at a unique time in the history of biological research. The human sequence, along with those of other animal and plant genomes, provides an unprecedented starting point for understanding the correlation between the structure and function of genetic material. 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 the susceptibility to diseases. New techniques and instruments that have just become available have changed the way that we analyze genomes by allowing a small number of people to generate billions of bases of sequence data a day. With these techniques we are determining the variation among individuals in a way that would have been unthinkable a few years ago. We are working to develop methods to apply this towards efficiently determining variation in the genomes, transcriptomes and epigenomes of both animals and plants. As we develop these approaches, we are applying them towards understanding problems in basic biology and the correlations between sequence variants and phenotypic differences. The areas of particular focus are the role of genomic variation in causing two major disease classes, cognitive disorders (such as schizophrenia) and cancer. See also the Lita Annenberg Hazen Genome Center at Cold Spring Harbor Laboratory. Selected Publications Hodges, E., et al. 2007. Genome-wide in situ exon capture for selective resequencing. Nature Genetics 39:1522-1527. International Human Genome Sequencing Consortium. 2001. Initial sequencing and analysis of the human genome. Nature 409: 860–921. Waterston, R.H., et al. 2002. Initial sequencing and comparative analysis of the mouse genome. Nature 420: 520–562. The Arabidopsis Genome Initiative. 2000. Analysis of the genome sequence of the flowering plant Arabidopsis thaliana. Nature 408: 796–815. The Cold Spring Harbor Laboratory, Washington University Genome Sequencing Center, and PE Biosystems Arabidopsis Sequencing Consortium. 2000. The complete sequence of a heterochromatic island from a higher eukaryote. Cell 100: 377–386.
|
