338 research outputs found

    A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

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    This is the author accepted manuscript. The final version is available from Nature Publishing Group via http://dx.doi.org/10.1038/ng.3448Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, mostly rare, protein-altering variants. Analyzing 16,144 patients and 17,832 controls, we identify 52 independently associated common and rare variants (P < 5 × 10(-8)) distributed across 34 loci. Although wet and dry AMD subtypes exhibit predominantly shared genetics, we identify the first genetic association signal specific to wet AMD, near MMP9 (difference P value = 4.1 × 10(-10)). Very rare coding variants (frequency <0.1%) in CFH, CFI and TIMP3 suggest causal roles for these genes, as does a splice variant in SLC16A8. Our results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes.We thank all participants of all the studies included for enabling this research by their participation in these studies. Computer resources for this project have been provided by the high-performance computing centers of the University of Michigan and the University of Regensburg. Group-specific acknowledgments can be found in the Supplementary Note. The Center for Inherited Diseases Research (CIDR) Program contract number is HHSN268201200008I. This and the main consortium work were predominantly funded by 1X01HG006934-01 to G.R.A. and R01 EY022310 to J.L.H

    Measurement of the top quark mass using single top quark events in proton-proton collisions at root s=8 TeV

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    Search for new physics with dijet angular distributions in proton-proton collisions at root S = 13 TeV

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    Search for supersymmetry in proton-proton collisions at 13 TeV using identified top quarks

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    A search for supersymmetry is presented based on proton-proton collision events containing identified hadronically decaying top quarks, no leptons, and an imbalance p(T)(miss) in transverse momentum. The data were collected with the CMS detector at the CERN LHC at a center-of-mass energy of 13 TeV, and correspond to an integrated luminosity of 35.9 fb(-1). Search regions are defined in terms of the multiplicity of bottom quark jet and top quark candidates, the p(T)(miss) , the scalar sum of jet transverse momenta, and themT2 mass variable. No statistically significant excess of events is observed relative to the expectation from the standard model. Lower limits on the masses of supersymmetric particles are determined at 95% confidence level in the context of simplified models with top quark production. For a model with direct top squark pair production followed by the decay of each top squark to a top quark and a neutralino, top squark masses up to 1020 GeVand neutralino masses up to 430 GeVare excluded. For amodel with pair production of gluinos followed by the decay of each gluino to a top quark-antiquark pair and a neutralino, gluino masses up to 2040 GeVand neutralino masses up to 1150 GeVare excluded. These limits extend previous results.Peer reviewe

    Search for light bosons in decays of the 125 GeV Higgs boson in proton-proton collisions at root s=8 TeV

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    Search for Evidence of the Type-III Seesaw Mechanism in Multilepton Final States in Proton-Proton Collisions at root s=13 TeV

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    Search for single production of vector-like quarks decaying into a b quark and a W boson in proton-proton collisions at root s=13 TeV

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    Search for Higgsino pair production in pp collisions at root s=13 TeV in final states with large missing transverse momentum and two Higgs bosons decaying via H -> b(b)over bar

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    Results are reported from a search for new physics in 13 TeV proton-proton collisions in the final state with large missing transverse momentum and two Higgs bosons decaying via H -> b(b)over bar. The search uses a data sample accumulated by the CMS experiment at the LHC in 2016, corresponding to an integrated luminosity of 35.9 fb(-1). The search is motivated by models based on gauge-mediated supersymmetry breaking, which predict the electroweak production of a pair of Higgsinos, each of which can decay via a cascade process to a Higgs boson and an undetected lightest supersymmetric particle. The observed event yields in the signal regions are consistent with the standard model background expectation obtained from control regions in data. Higgsinos in the mass range 230-770 GeV are excluded at 95% confidence level in the context of a simplified model for the production and decay of approximately degenerate Higgsinos.Peer reviewe

    Search for dijet resonances in proton-proton collisions at root s=13 TeV and constraints on dark matter and other models

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    Correction: DOI:10.1016/j.physletb.2017.09.029Peer reviewe
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