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Our interest in genomics revolves around the goals of the international human genome effort to construct physical maps and DNA sequence for the human genome. We have focused our initial efforts on developing the resources in molecular biology, computations, and instrumentation to support these goals. Our unique contributions include chromosome-specific libraries, fluorescence in situ hybridization techniques to paint whole chromosomes and to measure distance along DNA, mapping software, new DNA-sequencing instrumentation, robotics for laboratory automation, and flow systems for analysis and purification of cells and chromosomes.
Up to this point, we have emphasized the construction of a high-resolution cosmid map of chromosome 19 and instrumentation and computations in support of this goal. This phase of the project is nearing completion and greater emphasis will be placed on map validation, fine-structure mapping, finding the estimated 2000 genes on this chromosome, and sequencing the cosmids along the chromosome. We have now located more than 200 genes or genetic markers on chromosome 19, including the structural defect associated with the muscle disease myotonic dystrophy. We are planning to increase dramatically our efforts in DNA sequencing as the natural next step in our long-term effort. We have already sequenced more than 150 kbp of chromosome 19 including the cDNAs and genomic regions associated with three human DNA repair genes. Our new emphasis will focus on high-throughput sample sequencing and finish sequencing of selected regions of high biological interest. We see the mapping resource we have created as an important infrastructure for the scientific community and to industry as other groups focus on the high resolution map of disease genes.
For more information contact: Linda Ashworth (ashworth1@llnl.gov).