14,136 research outputs found

    Using Ontology Fingerprints to evaluate genome-wide association study results

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    We describe an approach to characterize genes or phenotypes via ontology fingerprints which are composed of Gene Ontology (GO) terms overrepresented among those PubMed abstracts linked to the genes or phenotypes. We then quantify the biological relevance between genes and phenotypes by comparing their ontology fingerprints to calculate a similarity score. We validated this approach by correctly identifying genes belong to their biological pathways with high accuracy, and applied this approach to evaluate GWA study by ranking genes associated with the lipid concentrations in plasma as well as to prioritize genes within linkage disequilibrium (LD) block. We found that the genes with highest scores were: ABCA1, LPL, and CETP for HDL; LDLR, APOE and APOB for LDL; and LPL, APOA1 and APOB for triglyceride. In addition, we identified some top ranked genes linking to lipid metabolism from the literature even in cases where such knowledge was not reflected in current annotation of these genes. These results demonstrate that ontology fingerprints can be used effectively to prioritize genes from GWA studies for experimental validation

    Correlation between ocular elasticity and intraocular pressure on optic nerve damages

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    Optic neuropathy in glaucoma causes visual field loss and blindness [1]. The optic nerve damage in the lamina cribrosa (LC) of the sclera, the primary site of glaucoma, is correlated with the intraocular pressure (IOP) [2]. Literature shows that the optic nerves are sheared at high IOP and the scleral biomechanical properties play an important role in the development and progression of glaucomatous damage to the LC and ganglion cell axons with the optic nerve head (ONH). The aim of this study is to determine and characterize the correlation between the corneal, scleral and ONH elasticity, and intraocular pressure on the optic nerve damages

    Correlation between ocular elasticity and intraocular pressure on optic nerve damages

    Get PDF
    Optic neuropathy in glaucoma causes visual field loss and blindness [1]. The optic nerve damage in the lamina cribrosa (LC) of the sclera, the primary site of glaucoma, is correlated with the intraocular pressure (IOP) [2]. Literature shows that the optic nerves are sheared at high IOP and the scleral biomechanical properties play an important role in the development and progression of glaucomatous damage to the LC and ganglion cell axons with the optic nerve head (ONH). The aim of this study is to determine and characterize the correlation between the corneal, scleral and ONH elasticity, and intraocular pressure on the optic nerve damages

    Implementing Unitarity in Perturbation Theory

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    Unitarity cannot be perserved order by order in ordinary perturbation theory because the constraint UU^\dagger=\1 is nonlinear. However, the corresponding constraint for K=lnUK=\ln U, being K=KK=-K^\dagger, is linear so it can be maintained in every order in a perturbative expansion of KK. The perturbative expansion of KK may be considered as a non-abelian generalization of the linked-cluster expansion in probability theory and in statistical mechanics, and possesses similar advantages resulting from separating the short-range correlations from long-range effects. This point is illustrated in two QCD examples, in which delicate cancellations encountered in summing Feynman diagrams of are avoided when they are calculated via the perturbative expansion of KK. Applications to other problems are briefly discussed.Comment: to appear in Phys. Rev.

    Self-aligned nanoscale SQUID on a tip

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    A nanometer-sized superconducting quantum interference device (nanoSQUID) is fabricated on the apex of a sharp quartz tip and integrated into a scanning SQUID microscope. A simple self-aligned fabrication method results in nanoSQUIDs with diameters down to 100 nm with no lithographic processing. An aluminum nanoSQUID with an effective area of 0.034 μ\mum2^2 displays flux sensitivity of 1.8106\cdot 10^{-6} Φ0/Hz1/2andoperatesinfieldsashighas0.6T.Withprojectedspinsensitivityof65\Phi_0/\mathrm{Hz}^{1/2} and operates in fields as high as 0.6 T. With projected spin sensitivity of 65 \mu_B/\mathrm{Hz}^{1/2}$ and high bandwidth, the SQUID on a tip is a highly promising probe for nanoscale magnetic imaging and spectroscopy.Comment: 14 manuscript pages, 5 figure
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