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  • 1
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    New insights into the performance of human whole-exome capture platforms (2015)
    Oxford University Press
    Details
    Publication Date: 2015-06-24
    Description: Whole exome sequencing (WES) is increasingly used in research and diagnostics. WES users expect coverage of the entire coding region of known genes as well as sufficient read depth for the covered regions. It is, however, unknown which recent WES platform is most suitable to meet these expectations. We present insights into the performance of the most recent standard exome enrichment platforms from Agilent, NimbleGen and Illumina applied to six different DNA samples by two sequencing vendors per platform. Our results suggest that both Agilent and NimbleGen overall perform better than Illumina and that the high enrichment performance of Agilent is stable among samples and between vendors, whereas NimbleGen is only able to achieve vendor- and sample-specific best exome coverage. Moreover, the recent Agilent platform overall captures more coding exons with sufficient read depth than NimbleGen and Illumina. Due to considerable gaps in effective exome coverage, however, the three platforms cannot capture all known coding exons alone or in combination, requiring improvement. Our data emphasize the importance of evaluation of updated platform versions and suggest that enrichment-free whole genome sequencing can overcome the limitations of WES in sufficiently covering coding exons, especially GC-rich regions, and in characterizing structural variants.
    Keywords: Massively Parallel (Deep) Sequencing
    Print ISSN: 0305-1048
    Electronic ISSN: 1362-4962
    Topics: Biology
    Published by Oxford University Press
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  • 2
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    The Role of Physical Techniques on the Preparation of Photoanodes for Dye Sensitized Solar Cells (2014)
    Hindawi
    Details
    Publication Date: 2014-02-10
    Description: Dye sensitized solar cells (DSSCs) have attracted numerous research, especially in the context of enhancing their efficiency and durability, due to the low-cost and environmentally friendly nature of photovoltaic (PV) technology. The materials in DSSCs are vital towards the realization of these goals, since many of the important components are influenced by their respective preparation and deposition methods. This review aims to detail the research and development aspects of the different physical methods with the purpose of evaluating their prospects and corresponding limitations. The diversity of consideration and criteria includes thin film applications, material characteristics, and process technology that need to be taken into account when selecting a specific deposition method. Choosing a deposition method is not as simple as it seems and is rendered quite complicated due to various factors. Usually, a researcher will evaluate techniques based on factors such as the different preparations and deposition technology with materials’ and substrates’ type, specified applications, costs, and efficiencies.
    Print ISSN: 1110-662X
    Electronic ISSN: 1687-529X
    Topics: Electrical Engineering, Measurement and Control Technology , Energy, Environment Protection, Nuclear Power Engineering
    Published by Hindawi
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  • 3
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    Impact of SLCO1B1 Pharmacogenetic Testing on Patient and Healthcare Outcomes: A Systematic Review (2019)
    Springer Nature
    Details
    Publication Date: 2019
    Description: Demonstrated improvements in patient outcomes will facilitate the clinical implementation of pharmacogenetic testing. Using the association between solute carrier organic anion transporter family member 1B1 (SLCO1B1) and statin‐associated muscle symptoms (SAMSs) as a model, we conducted a systematic review of patient outcomes after delivery of SLCO1B1 results. Using PubMed and Embase searches through December 19, 2017, we identified 37 eligible records reporting preliminary or final outcomes, including six studies delivering only SLCO1B1 results and five large healthcare system–based implementation projects of multipharmacogene panels. Two small trials have demonstrated at least short‐term improvements in low‐density lipoprotein cholesterol after SLCO1B1 testing among previously statin intolerant patients. Evidence from large implementation projects suggests that SLCO1B1 results may change prescribing patterns for some high‐risk patients. No study has reported improvements in SAMSs or cardiovascular events or tracked the economic outcomes of SLCO1B1 testing. Ongoing studies should collect and report outcomes relevant to pharmacogenetics stakeholders.
    Print ISSN: 0009-9236
    Electronic ISSN: 1532-6535
    Topics: Chemistry and Pharmacology , Medicine
    Published by Springer Nature
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  • 4
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    Impact of SLCO1B1 Pharmacogenetic Testing on Patient and Healthcare Outcomes: A Systematic Review (2018)
    Springer Nature
    Details
    Publication Date: 2018
    Description: Demonstrated improvements in patient outcomes will facilitate the clinical implementation of pharmacogenetic testing. Using the association between solute carrier organic anion transporter family member 1B1 (SLCO1B1) and statin‐associated muscle symptoms (SAMSs) as a model, we conducted a systematic review of patient outcomes after delivery of SLCO1B1 results. Using PubMed and Embase searches through December 19, 2017, we identified 37 eligible records reporting preliminary or final outcomes, including six studies delivering only SLCO1B1 results and five large healthcare system–based implementation projects of multipharmacogene panels. Two small trials have demonstrated at least short‐term improvements in low‐density lipoprotein cholesterol after SLCO1B1 testing among previously statin intolerant patients. Evidence from large implementation projects suggests that SLCO1B1 results may change prescribing patterns for some high‐risk patients. No study has reported improvements in SAMSs or cardiovascular events or tracked the economic outcomes of SLCO1B1 testing. Ongoing studies should collect and report outcomes relevant to pharmacogenetics stakeholders.
    Print ISSN: 0009-9236
    Electronic ISSN: 1532-6535
    Topics: Chemistry and Pharmacology , Medicine
    Published by Springer Nature
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  • 5
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    Distinct bone marrow blood vessels differentially regulate haematopoiesis (2016)
    Nature Publishing Group (NPG)
    Details
    Publication Date: 2016-04-14
    Description: Bone marrow endothelial cells (BMECs) form a network of blood vessels that regulate both leukocyte trafficking and haematopoietic stem and progenitor cell (HSPC) maintenance. However, it is not clear how BMECs balance these dual roles, and whether these events occur at the same vascular site. We found that mammalian bone marrow stem cell maintenance and leukocyte trafficking are regulated by distinct blood vessel types with different permeability properties. Less permeable arterial blood vessels maintain haematopoietic stem cells in a low reactive oxygen species (ROS) state, whereas the more permeable sinusoids promote HSPC activation and are the exclusive site for immature and mature leukocyte trafficking to and from the bone marrow. A functional consequence of high permeability of blood vessels is that exposure to blood plasma increases bone marrow HSPC ROS levels, augmenting their migration and differentiation, while compromising their long-term repopulation and survival. These findings may have relevance for clinical haematopoietic stem cell transplantation and mobilization protocols.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Itkin, Tomer -- Gur-Cohen, Shiri -- Spencer, Joel A -- Schajnovitz, Amir -- Ramasamy, Saravana K -- Kusumbe, Anjali P -- Ledergor, Guy -- Jung, Yookyung -- Milo, Idan -- Poulos, Michael G -- Kalinkovich, Alexander -- Ludin, Aya -- Kollet, Orit -- Shakhar, Guy -- Butler, Jason M -- Rafii, Shahin -- Adams, Ralf H -- Scadden, David T -- Lin, Charles P -- Lapidot, Tsvee -- EB017274/EB/NIBIB NIH HHS/ -- HL100402/HL/NHLBI NIH HHS/ -- R01 EB017274/EB/NIBIB NIH HHS/ -- U01 HL100402/HL/NHLBI NIH HHS/ -- England -- Nature. 2016 Apr 21;532(7599):323-8. doi: 10.1038/nature17624. Epub 2016 Apr 13.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Immunology, The Weizmann Institute of Science, Rehovot 76100, Israel. ; Wellman Center for Photomedicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA. ; Center for Systems Biology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA. ; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, Massachusetts 02138, USA. ; Harvard Stem Cell Institute, Cambridge, Massachusetts 02114, USA. ; Center for Regenerative Medicine and Cancer Center, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. ; Max Planck Institute for Molecular Biomedicine, Department of Tissue Morphogenesis and Faculty of Medicine, University of Munster, D-48149 Munster, Germany. ; Internal Medicine Department, Tel-Aviv Sourasky Medical Center, Tel-Aviv 64239, Israel. ; Department of Genetic Medicine, Weill Cornell Medical College, New York, New York 10065, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/27074509" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Antigens, Ly/metabolism ; Arteries/cytology/physiology ; Blood Vessels/*cytology/*physiology ; Bone Marrow/*blood supply ; Bone Marrow Cells/cytology ; Cell Differentiation ; Cell Movement ; Cell Self Renewal ; Cell Survival ; Chemokine CXCL12/metabolism ; Endothelial Cells/physiology ; Female ; *Hematopoiesis ; Hematopoietic Stem Cell Mobilization ; Hematopoietic Stem Cell Transplantation ; Hematopoietic Stem Cells/cytology ; Leukocytes/cytology ; Male ; Membrane Proteins/metabolism ; Mice ; Mice, Inbred C57BL ; Nestin/metabolism ; Pericytes/physiology ; Permeability ; Plasma/metabolism ; Reactive Oxygen Species/metabolism ; Receptors, CXCR4/metabolism
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Published by Nature Publishing Group (NPG)
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  • 6
    Electronic Resource
    Electronic Resource
    A 3H/3He Study of Ground Water Flow in a Fractured Bedrock Aquifer (1998)
    Oxford, UK : Blackwell Publishing Ltd
    Ground water 36 (1998), S. 0 
    Details
    ISSN: 1745-6584
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Energy, Environment Protection, Nuclear Power Engineering , Geosciences
    Notes: The concentrations of tritium, helium isotopes, and neon have been measured in ground water from a fractured bedrock aquifer in a densely populated suburban area near New York City. Samples were obtained from heavily pumped production wells of a regional water supply company. Helium and neon concentrations exceed the values for air-saturated water, which is explained by the addition of unfractionated atmospheric air, radiogenic helium, and tritiogenic 3He. The identification of the composition of these excess components allows reliable separation of the tritiogenic 3He concentration, and hence the calculation of the 3H/3He ages of the ground water. Comparison of the combined tritium plus tritiogenic 3He concentrations with the historical record of tritium input from precipitation confirms that the 3H/3He data are self-consistent and provides constraints on the degree of mixing or helium loss. The distribution of 3H/3He ages is related to the large-scale topography of the study area and the depth of the wells. Furthermore, correlations between the 3H/3He ages and concentrations of total dissolved solids and total CO2 show that the ages contain meaningful information related to the temporal changes of the ground water chemistry.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1745-6584.1998.tb02841.x
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    Paper (German National Licenses)
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  • 7
    Electronic Resource
    Electronic Resource
    High-resolution diode-laser spectroscopy on a fast beam of metastable atoms for detecting very rare krypton isotopes (1995)
    Springer
    Applied physics 61 (1995), S. 461-465 
    Details
    ISSN: 1432-0649
    Keywords: 07.65 ; 07.75 ; 32.00
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Abstract A fast krypton ion beam with an energy of 10 keV is transferred through a mass filter and neutralized in a Rb- (or Cs-) vapour charge exchange cell. The emerging beam of metastable Kr atoms of a selected Kr isotope is collinearly irradiated with a tunable cw GaAlAs diode laser at 811 nm. The spectrum of the 1s 5–2p 9 transition covers ∼ 10 GHz and consists of one line each for the five stable isotopes of Kr with even mass number and 15 hyperfine structure lines of83Kr. The individual lines are recorded by detecting the fluorescence signal perpendicular to the beams. Photons are guided to the PM tube by diffuse reflection from a high reflectance thermoplastics light collector. Up to 20 photons per atom are emitted by cycling between the two states during the flight time of 1.2 µs through the detector. The observed absorption linewidth of 100 MHz is a combination of laser linewidth and energy uncertainty in the fast atomic beam. In order to achieve maximum isotope selectivity the beam energy has to be adjusted in such a way that the Doppler shifted lines of all isotopes form an optimum pattern for detecting the very rare isotopes81Kr and85Kr in natural environmental samples.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01081274
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  • 8
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    High-resolution diode-laser spectroscopy on a fast beam of metastable atoms for detecting very rare krypton isotopes (1995)
    Springer
    Details
    Publication Date: 1995-11-01
    Print ISSN: 0946-2171
    Electronic ISSN: 1432-0649
    Topics: Physics
    Published by Springer
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  • 9
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    A 3H/3He Study of Ground Water Flow in a Fractured Bedrock Aquifer (1998)
    Wiley
    Details
    Publication Date: 1998-07-01
    Print ISSN: 0017-467X
    Electronic ISSN: 1745-6584
    Topics: Energy, Environment Protection, Nuclear Power Engineering , Geosciences
    Published by Wiley
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  • 10
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    Socio-ecological systems and biodiversity conservation in African city: Insights from Kano Emir’s Palace gardens (2012)
    Springer
    Details
    Publication Date: 2012-11-29
    Print ISSN: 1083-8155
    Electronic ISSN: 1573-1642
    Topics: Architecture, Civil Engineering, Surveying , Energy, Environment Protection, Nuclear Power Engineering
    Published by Springer
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