Scanning genomes

Bioinformatics requires people. It always has, and probably always will. To expect informatics to behave differently from experimental science is, at best, hopeful and overly optimistic and, at worse, naive or disingenuous. Experimental science is becoming ever more reliant on instrumental analysis and robotics, yet people are still required to troubleshoot and to make sense of the results. Much the same holds for bioinformatics We can devolve work that is routine to automation—scanning genomes, etc.— but people are still needed to ensure such automation works and to assess the results. New methods need to be developed and their results used and applied. There is... 

SNP profile, 175,178 SNP scan, genome-wide, 95 Social differentiation, 251, 252, 263 Social groups, genetic research and, 194-199... 

Calpain-10 (CAPN10) is the fust diabetes gene to have been identified through a genome scan. The discovery of calpain-10 has identified it as a molecule of importance to insulin signaling and secretion that may have relevance to the fiiture development of novel therapeutic targets for the treatment of type 2 diabetes. 

There appears to a be a family prostate cancer syndrome and genome-wide scans have identified potential prostate cancer susceptibility loci on chromosomes 1, 2q, 12p, 15q, 16p, and... 

Brilliant, M. H Gondo, Y., and Eicher, E. M. (1991). Direct molecular identification of the mouse pin k-eyed unstable mutation by genome scanning. Science 252 566-569. 

Plomin, R. and Craig, I. (2000), Genetics, environment and cognitive abilities review and work in progress towards a genome scan for quantitative trait locus associations using DNA pooling , British Journal of Psychiatry, 178(Supp. 40), 41 -48. 

Huttley GA, Smith MW, Carrington M, O Brien SJ. A scan for linkage disequilibrium across the human genome. Genetics 1999 152 1711-1722. 

In a genome-wide scan study, a large proportion of the genotyped markers fall into intergenic regions, and are likely to be not relevant for association studies. 

The second type of investigation is the linkage study or genome scan in which there is no predetermined biological hypothesis for the genetic basis of the phenotype. This type of study measures the degree to which the trait is linked to markers which are placed randomly across the whole genome. These studies are discussed further in Section 22.3. 

Straub RE et al. Susceptibility genes for nicotine dependence a genome scan and followup in an independent sample suggest that regions on chromosomes 2, 4, 10, 16, 17 and 18 merit further study. 

Metabolism of Other Pharmacologically Active Compounds by Cytochrome P450 Enzymes 449 Future Targets for Candidate Gene Studies 450 Genome Scans to Investigate Tobacco Dependence 450 Genomic Areas Linked with Susceptibility to Nicotine Dependence 451... 

Biallelic or Multiallelic Markers for Linkage Studies 451 Genome Scans in the Future 452 Evidence for the Genomic Basis of Nicotine Addiction from Animal Models 452... 

Meta-analysis of the 20 genome-wide scans for linkage to schizophrenia has identified loci on 16 of the auto-somes at which susceptibility genes are likely located[5]. Thus far, there is no evidence for autosomal dominant/ recessive Mendelian-like genes that would account for schizophrenia. Potential risk genes will be discussed in the section Cellular and Molecular Studies. 

Weber, J.L. and K.W. Broman, "Genotyping for Human Whole-Genome Scans Past, Present, and Future," Adv. Genet., 77-96 (1989). 

Furthermore, instead of just identifying a signal, the additional data and DNA samples enable scientists to rapidly study groups of patients that develop the adverse event and compare them with groups of patients who do not develop the event. Once a rare, serious adverse event has been identified, a genome-wide SNP scan could be performed on samples from patients with the serious, rare adverse event and compared with patients without the event, thus identifying the SNP markers associated with the rare adverse event. 

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