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Träfflista för sökning "WFRF:(Johnsson Carl) srt2:(2000-2004)"

Sökning: WFRF:(Johnsson Carl) > (2000-2004)

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1.
  • Buckley, Patrick G, et al. (författare)
  • A full-coverage, high-resolution human chromosome 22 genomic microarrayfor clinical and research applications
  • 2002
  • Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 11:25, s. 3221-3229
  • Tidskriftsartikel (refereegranskat)abstract
    • We have constructed the first comprehensive microarray representing a human chromosome for analysis of DNA copy number variation. This chromosome 22 array covers 34.7 Mb, representing 1.1% of the genome, with an average resolution of 75 kb. To demonstrate the utility of the array, we have applied it to profile acral melanoma, dermatofibrosarcoma, DiGeorge syndrome and neurofibromatosis 2. We accurately diagnosed homozygous/heterozygous deletions, amplifications/gains, IGLV/IGLC locus instability, and breakpoints of an imbalanced translocation. We further identified the 14-3-3 eta isoform as a candidate tumor suppressor in glioblastoma. Two significant methodological advances in array construction were also developed and validated. These include a strictly sequence defined, repeat-free, and non-redundant strategy for array preparation. This approach allows an increase in array resolution and analysis of any locus; disregarding common repeats, genomic clone availability and sequence redundancy. In addition, we report that the application of phi29 DNA polymerase is advantageous in microarray preparation. A broad spectrum of issues in medical research and diagnostics can be approached using the array. This well annotated and gene-rich autosome contains numerous uncharacterized disease genes. It is therefore crucial to associate these genes to specific 22q-related conditions and this array will be instrumental towards this goal. Furthermore, comprehensive epigenetic profiling of 22q-located genes and high-resolution analysis of replication timing across the entire chromosome can be studied using our array.
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2.
  • Kennedy, Ken, et al. (författare)
  • Toward a Framework for Preparing and Executing Adaptive Grid Programs
  • 2002
  • Konferensbidrag (refereegranskat)abstract
    • This paper describes the program execution framework being developed by the Grid Application Development Software (GrADS) Project . The goal of this framework is to provide good resource allocation for Grid applications and to support adaptive reallocation if performance degrades because of changes in the availability of Grid resources. At the heart of this strategy is the notion of a configurable object program, which contains, in addition to application code, strategies for mapping the application to different collections of resources and a resource selection model that provides an estimate of the performance of the application on a specific collection of Grid resources. This model must be accurate enough to distinguish collections of resources that will deliver good performance from those that will not. The GrADS execution framework also provides a contract monitoring mechanism for interrupting and remapping an application execution when performance falls below acceptable levels.
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