Human Genome Sequencing Center, Baylor College of Medicine
 

Research Focus

Rat Genome
The major focus of the BCM-HGSC is high-throughput DNA sequence generation and accompanying analysis. The largest current project is production of a draft sequence (blueprint) of the rat genome within two years. The BCM-HGSC is responsible for about 60 percent of the sequencing, as well as overall coordination of the project. The laboratory rat is widely used as a disease model in research programs directed at understanding, treating, and preventing many human diseases. The sequencing of the rat genome is being done in collaboration with Celera Genomics and Genome Therapeutics Corporation. Groups at the Genome Sequence Centre in British Columbia, The Institute for Genomic Research, the University of Utah, and The Children's Hospital of Oakland are also contributing.

 

Human Genome
Completion of the Human Genome Project represents another large-scale endeavor for the BCM-HGSC. The Center is responsible for determining the DNA sequence of chromosomes 3, 12, and part of X. This represents about 10 percent of the human genome. The draft sequence of the genome was completed in the Spring, 2000, and the initial analysis was published in February 2001. The current work is refining the sequence and will lead to a complete, annotated sequence in 2003. This will be of enormous benefit in a wide range of research activities in the biomedical sciences. Comparison of the rat and human genomes is already underway at the Center, leading to new gene predictions and a deeper understanding of man's origins.

 

Mammalian Gene Collection (cDNAs)
A third major project related to the human genome is the sequencing of full-length mammalian genes (cDNAs). Only about 3 percent of the human genome codes for genes, and each gene is broken into many small pieces, making analysis very challenging. In contrast, each cDNA is a complete coding region (gene) with the segments spliced together. The sequences of cDNAs thus serve to rapidly delineate human genes. This is critical for the analysis of the human genome.

 


Other Organisms
The BCM-HGSC is also sequencing the genomes of a number of other important organisms. These include the fruit fly, Drosophila melanogaster and Drosophila pseudoobscura, the slime mold (amoeba) Dictyostelium discoideum, and a number of bacteria that cause serious infections (Rickettsia typhi, typhus fever; Enterococcus faecium, nosocomial infections; Mannheimia haemolytica, shipping fever; Fusobacterium nucleatum, periodontal disease). In addition to these whole genome projects, a number of smaller sequencing projects are underway, targeting key genetic regions in primates, cattle, and the mouse.

Disease Related
The BCM-HGSC is studying a number of diseases through DNA sequence based approaches. These studies includes childhood leukemias, schizophrenia, and heart disease, as well as the genomic differences that lead to evolutionary changes, the role of host genetic variation in the course of infectious disease and the molecular basis of specific diseases.

Technology
Finally, a number of technology development research projects are being pursued in the HGSC. This includes the investigation of new molecular technologies for mapping and sequencing, the exploration for novel chemistries for DNA tagging, development of instrumentation for DNA manipulation and building new computer programs for genomic data analysis.

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BCM HGSC