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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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| 6. |
- Korn, G., et al.
(författare)
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Ultrashort 1-kHz laser plasma hard x-ray source
- 2002
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Ingår i: Optics Letters. - 0146-9592 .- 1539-4794. ; 27:10, s. 866-868
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Tidskriftsartikel (refereegranskat)abstract
- We achieved a continuous, stable, ultrashort pulse hard x-ray point source by focusing 1.8-W, 1-kHz, 50-fs laser pulses onto a novel, 30-mum-diameter, high-velocity, liquid-metal gallium jet. This target geometry avoids most of the debris problems of solid targets and provides nearly 4pi illumination. Photon fluxes of 5 X 10(8) photons/s are generated in a two-component spectrum consisting of a broad continuum from 4 to 14 keV and strong K-alpha and K-beta emission lines at 9.25 and 10.26 keV. This source will find wide use in time-resolved x-ray diffraction studies and other applications.
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| 7. |
- Thoss, A., et al.
(författare)
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Kilohertz sources of hard x rays and fast ions with femtosecond laser plasmas
- 2003
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Ingår i: Journal of the Optical Society of America. B, Optical physics. - 0740-3224 .- 1520-8540. ; 20:1, s. 224-228
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Tidskriftsartikel (refereegranskat)abstract
- We demonstrate a new, stable, kilohertz femtosecond laser plasma source of hard-x-ray continuum and K-alpha emission that uses a microscopic liquid jet target that is continuous and debris free. Plasmas produced by ultrashort (50-fs) intense laser pulses from a fine (10-30-mum diameter) liquid Ga jet emit bright 9.3- and 10.3-keV K-alpha and K-beta lines superimposed on a multikilovolt bremmstrahlung continuum. Kilohertz femtosecond x-ray sources will find many applications in time-resolved x-ray diffraction and microscopy studies. As high-intensity lasers become more compact and operate at increasingly high repetition-rates, they require a target configuration that is both repeatable from shot to shot and debris free. Our target provides a pristine, unperturbed filament surface at rates >100 kHz. A number of liquid metal targets are considered. We show the hard-x-ray spectrum described above. The source was generated by a 50-fs-duration, 1-kHz, 2-W, high-intensity Ti:sapphire laser. Using the same technology, we also generate forward-going sub-mega-electron-volt (sub-MeV) protons from a 10-mum liquid water target at 1-kHz repetition rates. Kilohertz sources of high-energy ions will find many applications in time-resolved particle interaction studies and will lead to efficient generation of short-lived isotopes for use in nuclear medicine and other applications. The protons were detected with CR-39 track detectors in both the forward and the backward directions up to energies of similar to500 keV. As the intensity of compact high-repetition-rate lasers sources increases, we can expect improvements in the energy, conversion efficiency, and directionality to occur. The effect of these developments is discussed. As compact, high-repetition-rate femtosecond laser technology reaches focused intensities of similar to10(19) W/cm(2), many new applications of high-repetition-rate hard-x-ray and MeV ion sources will become practical.
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