Research Interests

My laboratory has worked on large-scale genome analysis. In collaboration with the Sanger Centre, we constructed a physical map and obtained the complete sequence of the first animal genome, the nematode Caenorhabditis elegans. We contributed to the completion of the S. cerevesiae, A. thaliana, and other genomes and are principal partners in the Human Genome Project which constructed the clone map and contributed 20 percent of the sequence. We also pioneered the use of the Internet for the rapid release of sequence and map information. In other gene-identification projects, we generated more than two million expressed sequence tags from a variety of organisms, providing access to many thousands of genes and aiding in genome sequence interpretation. With collaborators we identified 1.4M single nucleotide variants in the human genome for use in genetic mapping and disease discovery. Early genetic analysis of muscle formation in C. elegans led to the identification of many of the required genes and a model of myofilament lattice assembly. The need to identify the large number of genes required for muscle formation led to development of new tools for gene recovery in C. elegans, including tRNA nonsense suppressors, transposons and ultimately the map and sequence of C. elegans.

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Section 41: Medical Genetics, Hematology, and Oncology