The Utah Center for Human Genome Research is an interdisciplinary group of biologist, engineers and computer scientists that is developing large scale, directed DNA sequencing technology building on accomplishments of the first funding period. The core technology for sequencing is transposon based to organize the input DNA, with automated multiplex sequencing using a new, automated probing instrument. A novel fluorogenic detection system provides on-line capture of sequence information with wholly integrated computer control and base calling. By year five the sequencing system should sustain a rate of 14mb per year of finished sequence. Sequencing of the entire human chromosome 17 will be initiated. This core proving technology will also be developed for rapid genotyping and sequence comparisons as part of a technology access component. Also the interrelated technology of capillary electrophoresis for rapid sequencing and genotyping will be pursued using a fluidics based sample handling. Core components include a program in ethical, legal and social issues.
| Stump, M D; Cherry, J L; Weiss, R B (1999) The use of modified primers to eliminate cycle sequencing artifacts. Nucleic Acids Res 27:4642-8 |
| Cherry, J L (1998) Should we expect substitution rate to depend on population size? Genetics 150:911-9 |
| Botkin, J R; McMahon, W M; Smith, K R et al. (1998) Privacy and confidentiality in the publication of pedigrees: a survey of investigators and biomedical journals. JAMA 279:1808-12 |
| Botkin, J R (1998) Ethical issues and practical problems in preimplantation genetic diagnosis. J Law Med Ethics 26:17-28, 3 |
| Flejter, W L; Fergestad, J; Gorski, J et al. (1998) A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779. Am J Hum Genet 63:794-802 |
| Huang, S C; Stump, M D; Weiss, R et al. (1996) Binding of biotinylated DNA to streptavidin-coated polystyrene latex: effects of chain length and particle size. Anal Biochem 237:115-22 |
