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  • 1
    Publication Date: 2001-11-27
    Description: Global patterns of human DNA sequence variation (haplotypes) defined by common single nucleotide polymorphisms (SNPs) have important implications for identifying disease associations and human traits. We have used high-density oligonucleotide arrays, in combination with somatic cell genetics, to identify a large fraction of all common human chromosome 21 SNPs and to directly observe the haplotype structure defined by these SNPs. This structure reveals blocks of limited haplotype diversity in which more than 80% of a global human sample can typically be characterized by only three common haplotypes.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Patil, N -- Berno, A J -- Hinds, D A -- Barrett, W A -- Doshi, J M -- Hacker, C R -- Kautzer, C R -- Lee, D H -- Marjoribanks, C -- McDonough, D P -- Nguyen, B T -- Norris, M C -- Sheehan, J B -- Shen, N -- Stern, D -- Stokowski, R P -- Thomas, D J -- Trulson, M O -- Vyas, K R -- Frazer, K A -- Fodor, S P -- Cox, D R -- New York, N.Y. -- Science. 2001 Nov 23;294(5547):1719-23.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Perlegen Sciences, Inc., 2021 Stierlin Court, Mountain View, CA 94043, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11721056" target="_blank"〉PubMed〈/a〉
    Keywords: Algorithms ; Alleles ; Animals ; Chromosomes, Human, Pair 21/*genetics ; Continental Population Groups/genetics ; Ethnic Groups/genetics ; Gene Frequency/genetics ; Genetic Variation/genetics ; Genome, Human ; Haplotypes/*genetics ; Humans ; Hybrid Cells/metabolism ; Mutation/genetics ; Oligonucleotide Array Sequence Analysis/*methods ; Polymorphism, Single Nucleotide/*genetics ; Random Allocation ; Sensitivity and Specificity
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 2
    Publication Date: 2013-01-30
    Description: Higher activity radioactive wastes remain hazardous for extremely long timescales, of up to hundreds of thousands of years. Disposing of such wastes deep underground presents the internationally accepted best solution for isolating them from the surface environment on associated timescales. Geological disposal programmes need to assess potential releases from such facilities on long timescales to inform siting and design decisions and to help build confidence that they will provide an adequate degree of safety. Assessments of geological disposal include consideration of the wastes, the engineered facility, the host geology and the surface and near-surface environment including the biosphere. This paper presents an overview of recent post-closure biosphere assessment studies undertaken in support of the Nuclear Decommissioning Authority Radioactive Waste Management Directorate disposal system safety case for geological disposal of the United Kingdom's higher activity radioactive wastes. Recent biosphere studies have included: (1) ensuring that the United Kingdom's approach to consideration of the biosphere in safety case studies continues to be fit for purpose, irrespective of which site or sites are considered in the United Kingdom's geological disposal programme; (2) updating projections of global climate and sea level, together with consideration of the potential importance of transitions between climate states; (3) considering geosphere–biosphere interface issues and their representation, including redox modelling and catchment-scale hydrological modelling; and (4) identifying key radionuclides and developing a series of reports describing their behaviour in the biosphere together with an evaluation of associated implications for post-closure assessment calculations.
    Print ISSN: 0026-461X
    Electronic ISSN: 1471-8022
    Topics: Geosciences
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  • 3
    Publication Date: 2015-05-01
    Description: We present new wide-field photometry and spectroscopy of the globular clusters (GCs) around NGC 4649 (M60), the third brightest galaxy in the Virgo cluster. Imaging of NGC 4649 was assembled from a recently obtained Hubble Space Telescope /Advanced Camera for Surveys mosaic, and new Subaru/Suprime-Cam and archival Canada–France–Hawaii Telescope/MegaCam data. About 1200 sources were followed up spectroscopically using combined observations from three multi-object spectrographs: Keck/Deep Imaging Multi-Object Spectrograph, Gemini/Gemini Multi-Object Spectrograph and Multiple Mirror Telescope/Hectospec. We confirm 431 unique GCs belonging to NGC 4649, a factor of 3.5 larger than previous data sets and with a factor of 3 improvement in velocity precision. We confirm significant GC colour bimodality and find that the red GCs are more centrally concentrated, while the blue GCs are more spatially extended. We infer negative GC colour gradients in the innermost 20 kpc and flat gradients out to large radii. Rotation is detected along the galaxy major axis for all tracers: blue GCs, red GCs, galaxy stars and planetary nebulae. We compare the observed properties of NGC 4649 with galaxy formation models. We find that formation via a major merger between two gas-poor galaxies, followed by satellite accretion, can consistently reproduce the observations of NGC 4649 at different radii. We find no strong evidence to support an interaction between NGC 4649 and the neighbouring spiral galaxy NGC 4647. We identify interesting GC kinematic features in our data, such as counter-rotating subgroups and bumpy kinematic profiles, which encode more clues about the formation history of NGC 4649.
    Print ISSN: 0035-8711
    Electronic ISSN: 1365-2966
    Topics: Physics
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