1,453 research outputs found

    Debutant iOS app and gene-disease complexities in clinical genomics and precision medicine.

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    BACKGROUND: The last decade has seen a dramatic increase in the availability of scientific data, where human-related biological databases have grown not only in count but also in volume, posing unprecedented challenges in data storage, processing, analysis, exchange, and curation. Next generation sequencing (NGS) advancements have facilitated and accelerated the process of identifying genetic variations. Adopting NGS with Whole-Genome and RNA sequencing in a diagnostic context has the potential to improve disease-risk detection in support of precision medicine and drug discovery. Several bioinformatics pipelines have been developed to strengthen variant interpretation by efficiently processing and analyzing sequence data, whereas many published results show how genomics data can be proactively incorporated into medical practices and improve utilization of clinical information. To utilize the wealth of genomics and health, there is a crucial need to generate appropriate gene-disease annotation repositories accessed through modern technology. RESULTS: Our focus here is to create a comprehensive database with mobile access to actionable genes and classified diseases, considered the foundation for clinical genomics and precision medicine. We present a publicly available iOS app, PAS-Gen, which invites global users to freely download it on iPhone and iPad devices, quickly adopt its easy to use interface, and search for genes and related diseases. PAS-Gen was developed using Swift, XCODE, and PHP scripting that uses Web and MySQL database servers, which includes over 59,000 protein-coding and non-coding genes, and over 90,000 classified gene-disease associations. PAS-Gen is founded on the clinical and scientific premise that easier healthcare and genomics data sharing will accelerate future medical discoveries. CONCLUSIONS: We present a cutting-edge gene-disease database with a smart phone application, integrating information on classified diseases and related genes. The PAS-Gen app will assist researchers, medical practitioners, and pharmacists by providing a broad and view of genes that may be implicated in the likelihood of developing certain diseases. This tool with accelerate users\u27 abilities to understand the genetic basis of human complex diseases and by assimilating genomic and phenotypic data will support future work to identify gene-specific designer drugs, target precise molecular fingerprints for tumors, suggest appropriate drug therapies, predict individual susceptibility to disease, and diagnose and treat rare illnesses

    Wavelet multiscale analysis for hedge funds: scaling and strategies

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    The wide acceptance of Hedge Funds by Institutional Investors and Pension Funds has led to an explosive growth in assets under management. These investors are drawn to Hedge Funds due to the seemingly low correlation with traditional investments and the attractive returns. The correlations and market risk (the Beta in the Capital Asset Pricing Model) of Hedge Funds are generally calculated using monthly returns data, which may produce misleading results as Hedge Funds often hold illiquid exchange-traded securities or difficult to price over-the- counter securities. In this paper, the Maximum Overlap Discrete Wavelet Transform (MODWT) is applied to measure the scaling properties of Hedge Fund correlation and market risk with respect to the S&P 500. It is found that the level of correlation and market risk varies greatly according to the strategy studied and the time scale examined. Finally, the effects of scaling properties on the risk profile of a portfolio made up of Hedge Funds is studied using correlation matrices calculated over different time horizons

    Robust Digital Holography For Ultracold Atom Trapping

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    We have formulated and experimentally demonstrated an improved algorithm for design of arbitrary two-dimensional holographic traps for ultracold atoms. Our method builds on the best previously available algorithm, MRAF, and improves on it in two ways. First, it allows for creation of holographic atom traps with a well defined background potential. Second, we experimentally show that for creating trapping potentials free of fringing artifacts it is important to go beyond the Fourier approximation in modelling light propagation. To this end, we incorporate full Helmholtz propagation into our calculations.Comment: 7 pages, 4 figure

    Creation of super-high-flux photo-neutrons and gamma-rays > 8 MeV using a petawatt laser to irradiate high-Z solid targets

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    We report the creation of super-high-flux gamma-rays with energy >8 MeV and photo-neutrons via the (g,n) reaction near giant dipole resonance energies (8 - 20 MeV), using the ~130 J Texas Petawatt laser to irradiate high-Z (Au, Pt, Re, W) targets of mm - cm thickness, at laser intensities up to ~5x1021W/cm2. We detected up to ~ several x 1012 gamma-rays > 8 MeV (~3% of incident laser energy) and ~ 1010 photo-neutrons per shot. Due to the short pulse and narrow gamma-ray cone (~17o half-width) around laser forward, the peak emergent gamma-ray flux >8 MeV reached ~1027 gammas/cm2/sec, and the peak emergent neutron flux reached ~1020 neutrons/cm2/sec. Such intense gamma-ray and neutron fluxes are among the highest achieved for short-pulse laser experiments. They will facilitate the study of nuclear reactions requiring super-high-flux of gamma-rays or neutrons, such as the creation of r-process elements. These results may also have far-reaching applications for nuclear energy, such as the transmutation of nuclear waste.Comment: 16 pages, 9 figure

    A Stem Cell-Based Tool for Small Molecule Screening in Adipogenesis

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    Techniques for small molecule screening are widely used in biological mechanism study and drug discovery. Here, we reported a novel adipocyte differentiation assay for small molecule selection, based on human mesenchymal stem cells (hMSCs) transduced with fluorescence reporter gene driven by adipogenic specific promoter - adipocyte Protein 2 (aP2; also namely Fatty Acid Binding Protein 4, FABP4). During normal adipogenic induction as well as adipogenic inhibition by Ly294002, we confirmed that the intensity of green fluorescence protein corresponded well to the expression level of aP2 gene. Furthermore, this variation of green fluorescence protein intensity can be read simply through fluorescence spectrophotometer. By testing another two small molecules in adipogenesis –Troglitazone and CHIR99021, we proved that this is a simple and sensitive method, which could be applied in adipocyte biology, drug discovery and toxicological study in the future

    Differential gene expression profile in the small intestines of mice lacking pacemaker interstitial cells of Cajal

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    BACKGROUND: We previously identified eight known and novel genes differentially expressed in the small intestines of wild type and W/W(V )mice, which have greatly reduced populations of the interstitial cells of Cajal, that are responsible for the generation of electrical slow waves, by using a differential gene display method. METHODS: By using the same method we isolated additional candidate genes that were specifically down- or up-regulated in W/W(V )mice. Novel transcripts were designated as DDWMEST. RESULTS: We isolated seven candidates that were specifically down- or up-regulated in W/W(V )mice. Two novel transcripts, DDWMEST 1 and -91 were increased in both fed and fasted W/W(V )mice. Expression of another five genes was suppressed in W/W(V )mice: ARG2 (Arginase II), ONZIN (encoding leukemia inhibitory factor regulated protein), and three novel transcripts: DDWMEST62, -84, and -100. Together with the previous report, we identified fifteen differentially expressed genes in total in the small intestines of W/W(V )mice. Eight of these genes were reduced in the jejunums of W/W(V )mice compared to age matched wild type mice, whereas the other seven genes showed an increase in expression. Differential expression was the same in fasted and fed animals, suggesting that the differences were independent of the dietetic state of the animal. CONCLUSIONS: Several known and novel genes are differentially expressed in the small intestines of W/W(V )mice. Differential gene comparison might contribute to our understanding of motility disorders associated with the loss of the interstitial cells of Cajal

    Ultrahigh Surface Area Three-Dimensional Porous Graphitic Carbon from Conjugated Polymeric Molecular Framework

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    Porous graphitic carbon is essential for many applications such as energy storage devices, catalysts, and sorbents. However, current graphitic carbons are limited by low conductivity, low surface area, and ineffective pore structure. Here we report a scalable synthesis of porous graphitic carbons using a conjugated polymeric molecular framework as precursor. The multivalent cross-linker and rigid conjugated framework help to maintain micro- and mesoporous structures, while promoting graphitization during carbonization and chemical activation. The above unique design results in a class of highly graphitic carbons at temperature as low as 800 ??C with record-high surface area (4073 m2 g-1), large pore volume (2.26 cm-3), and hierarchical pore architecture. Such carbons simultaneously exhibit electrical conductivity >3 times more than activated carbons, very high electrochemical activity at high mass loading, and high stability, as demonstrated by supercapacitors and lithium-sulfur batteries with excellent performance. Moreover, the synthesis can be readily tuned to make a broad range of graphitic carbons with desired structures and compositions for many applications.clos
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