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- Imanishi, T., et al.
(författare)
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Integrative annotation of 21,037 human genes validated by full-length cDNA clones
- 2004
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Ingår i: PLoS biology. - : Public Library of Science (PLoS). - 1544-9173 .- 1545-7885. ; 2:6, s. 856-875
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Tidskriftsartikel (refereegranskat)abstract
- The human genome sequence defines our inherent biological potential; the realization of the biology encoded therein requires knowledge of the function of each gene. Currently, our knowledge in this area is still limited. Several lines of investigation have been used to elucidate the structure and function of the genes in the human genome. Even so, gene prediction remains a difficult task, as the varieties of transcripts of a gene may vary to a great extent. We thus performed an exhaustive integrative characterization of 41,118 full-length cDNAs that capture the gene transcripts as complete functional cassettes, providing an unequivocal report of structural and functional diversity at the gene level. Our international collaboration has validated 21,037 human gene candidates by analysis of high-quality full-length cDNA clones through curation using unified criteria. This led to the identification of 5,155 new gene candidates. It also manifested the most reliable way to control the quality of the cDNA clones. We have developed a human gene database, called the H-Invitational Database (H-InvDB; http://www.h-invitational.jp/). It provides the following: integrative annotation of human genes, description of gene structures, details of novel alternative splicing isoforms, non-protein-coding RNAs, functional domains, subcellular localizations, metabolic pathways, predictions of protein three-dimensional structure, mapping of known single nucleotide polymorphisms (SNPs), identification of polymorphic microsatellite repeats within human genes, and comparative results with mouse full-length cDNAs. The H-InvDB analysis has shown that up to 4% of the human genome sequence (National Center for Biotechnology Information build 34 assembly) may contain misassembled or missing regions. We found that 6.5% of the human gene candidates (1,377 loci) did not have a good protein-coding open reading frame, of which 296 loci are strong candidates for non-protein-coding RNA genes. In addition, among 72,027 uniquely mapped SNPs and insertions/deletions localized within human genes, 13,215 nonsynonymous SNPs, 315 nonsense SNPs, and 452 indels occurred in coding regions. Together with 25 polymorphic microsatellite repeats present in coding regions, they may alter protein structure, causing phenotypic effects or resulting in disease. The H-InvDB platform represents a substantial contribution to resources needed for the exploration of human biology and pathology.
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| 2. |
- Hirai, T., et al.
(författare)
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Performance and erosion of a tungsten brush limiter exposed at the TEXTOR tokamak
- 2003
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Ingår i: Journal of Nuclear Materials. - 0022-3115 .- 1873-4820. ; 313, s. 67-71
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Tidskriftsartikel (refereegranskat)abstract
- To examine the performance of a castellated structure under plasma loading, a hemispherical solid tungsten brush limiter was exposed to the plasma in the TEXTOR-94 tokamak. Due to the thermally isolated column of W segments, IR camera showed a non-uniform temperature distribution. The maximum incident power density was calculated to be about 35-40 MW/m(2). Concerning impurity generation, the structure did not show any particular effects. During plasma exposure, only some minor cracks developed in one of the columns, however, the crack propagation was interrupted by a groove. It can be concluded that the W brush limiter had comparable performance and superior mechanical behaviour compared to a solid W limiter. To study erosion and long-range transport of W atoms, a graphite limiter was exposed simultaneously with the brush limiter. As a result, the deposited W atoms via long-range transportation were estimated to be 10(15) cm(-2) shot(-1) at 46.5 cm from the plasma centre of TEXTOR.
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| 4. |
- Ohya, K., et al.
(författare)
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Modeling of erosion and deposition patterns on C-W and W-Ta twin limiters exposed to the TEXTOR edge plasmas
- 2004
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Ingår i: Journal of Nuclear Materials. - : Elsevier BV. - 0022-3115 .- 1873-4820. ; 329-33, s. 732-736
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Tidskriftsartikel (refereegranskat)abstract
- The erosion and deposition patterns on tungsten and tantalum test limiters exposed to the TEXTOR deuterium plasma containing a small amount of C impurity are simulated with the modified EDDY code. At the very top of the W and Ta limiters, there occurs neither erosion nor deposition, but the erosion proceeds slowly along the surface. When approaching the edge, the surface is covered by a thick C layer, which shows a very sharp boundary similar to the observation in surface measurements. In the erosion zone, the re-deposited carbon forms a W (Ta)-C mixed layer with small C concentration. Assumptions for chemical erosion yields of similar to0.01 for W and
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