332 research outputs found
Diversity and impact of rare variants in genes encoding the platelet G protein-coupled receptors
Platelet responses to activating agonists are influenced by common
population variants within or near G protein-coupled receptor (GPCR)
genes that affect receptor activity. However, the impact of rare GPCR
gene variants is unknown. We describe the rare single nucleotide variants
(SNVs) in the coding and splice regions of 18 GPCR genes in
7,595 exomes from the 1,000-genomes and Exome Sequencing
Project databases and in 31 cases with inherited platelet function disorders
(IPFDs). In the population databases, the GPCR gene target
regions contained 740 SNVs (318 synonymous, 410 missense, 7 stop
gain and 6 splice region) of which 70 % had global minor allele frequency
(MAF) < 0.05 %. Functional annotation using six computational
algorithms, experimental evidence and structural data identified
156/740 (21 %) SNVs as potentially damaging to GPCR function, most
commonly in regions encoding the transmembrane and C-terminal intracellular
receptor domains. In 31 index cases with IPFDs (Gi-pathway
defect n=15; secretion defect n=11; thromboxane pathway defect
n=3 and complex defect n=2) there were 256 SNVs in the target
regions of 15 stimulatory platelet GPCRs (34 unique; 12 with
MAF< 1 % and 22 with MAF≥ 1 %). These included rare variants predicting
R122H, P258T and V207A substitutions in the P2Y12 receptor
that were annotated as potentially damaging, but only partially explained
the platelet function defects in each case. Our data highlight
that potentially damaging variants in platelet GPCR genes have low
individual frequencies, but are collectively abundant in the population.
Potentially damaging variants are also present in pedigrees with IPFDs
and may contribute to complex laboratory phenotypes
Singularity, complexity, and quasi--integrability of rational mappings
We investigate global properties of the mappings entering the description of
symmetries of integrable spin and vertex models, by exploiting their nature of
birational transformations of projective spaces. We give an algorithmic
analysis of the structure of invariants of such mappings. We discuss some
characteristic conditions for their (quasi)--integrability, and in particular
its links with their singularities (in the 2--plane). Finally, we describe some
of their properties {\it qua\/} dynamical systems, making contact with
Arnol'd's notion of complexity, and exemplify remarkable behaviours.Comment: Latex file. 17 pages. To appear in CM
Image labeling and grouping by minimizing linear functionals over cones
We consider energy minimization problems related to image labeling, partitioning, and grouping, which typically show up at mid-level stages of computer vision systems. A common feature of these problems is their intrinsic combinatorial complexity from an optimization pointof-view. Rather than trying to compute the global minimum - a goal we consider as elusive in these cases - we wish to design optimization approaches which exhibit two relevant properties: First, in each application a solution with guaranteed degree of suboptimality can be computed. Secondly, the computations are based on clearly defined algorithms which do not comprise any (hidden) tuning parameters. In this paper, we focus on the second property and introduce a novel and general optimization technique to the field of computer vision which amounts to compute a sub optimal solution by just solving a convex optimization problem. As representative examples, we consider two binary quadratic energy functionals related to image labeling and perceptual grouping. Both problems can be considered as instances of a general quadratic functional in binary variables, which is embedded into a higher-dimensional space such that sub optimal solutions can be computed as minima of linear functionals over cones in that space (semidefinite programs). Extensive numerical results reveal that, on the average, sub optimal solutions can be computed which yield a gap below 5% with respect to the global optimum in case where this is known
On the Quantum Invariant for the Spherical Seifert Manifold
We study the Witten--Reshetikhin--Turaev SU(2) invariant for the Seifert
manifold where is a finite subgroup of SU(2). We show
that the WRT invariants can be written in terms of the Eichler integral of the
modular forms with half-integral weight, and we give an exact asymptotic
expansion of the invariants by use of the nearly modular property of the
Eichler integral. We further discuss that those modular forms have a direct
connection with the polyhedral group by showing that the invariant polynomials
of modular forms satisfy the polyhedral equations associated to .Comment: 36 page
Global Search for New Physics with 2.0/fb at CDF
Data collected in Run II of the Fermilab Tevatron are searched for
indications of new electroweak-scale physics. Rather than focusing on
particular new physics scenarios, CDF data are analyzed for discrepancies with
the standard model prediction. A model-independent approach (Vista) considers
gross features of the data, and is sensitive to new large cross-section
physics. Further sensitivity to new physics is provided by two additional
algorithms: a Bump Hunter searches invariant mass distributions for "bumps"
that could indicate resonant production of new particles; and the Sleuth
procedure scans for data excesses at large summed transverse momentum. This
combined global search for new physics in 2.0/fb of ppbar collisions at
sqrt(s)=1.96 TeV reveals no indication of physics beyond the standard model.Comment: 8 pages, 7 figures. Final version which appeared in Physical Review D
Rapid Communication
Observation of Orbitally Excited B_s Mesons
We report the first observation of two narrow resonances consistent with
states of orbitally excited (L=1) B_s mesons using 1 fb^{-1} of ppbar
collisions at sqrt{s} = 1.96 TeV collected with the CDF II detector at the
Fermilab Tevatron. We use two-body decays into K^- and B^+ mesons reconstructed
as B^+ \to J/\psi K^+, J/\psi \to \mu^+ \mu^- or B^+ \to \bar{D}^0 \pi^+,
\bar{D}^0 \to K^+ \pi^-. We deduce the masses of the two states to be m(B_{s1})
= 5829.4 +- 0.7 MeV/c^2 and m(B_{s2}^*) = 5839.7 +- 0.7 MeV/c^2.Comment: Version accepted and published by Phys. Rev. Let
Search for charged Higgs bosons in decays of top quarks in p-pbar collisions at sqrt(s) = 1.96 TeV
7 pages, 2 figuresWe report the recent charged Higgs search in top quark decays in 2.2/fb CDF data. This is the first attempt to search for charged Higgs using fully reconstructed mass assuming H->c-sbar in small tan beta region. No evidence of a charged Higgs is observed in the CDF data, hence 95% upper limits are placed at B(t->H+b)We report on the first direct search for charged Higgs bosons decaying into cs̅ in tt̅ events produced by pp̅ collisions at √s=1.96 TeV. The search uses a data sample corresponding to an integrated luminosity of 2.2 fb-1 collected by the CDF II detector at Fermilab and looks for a resonance in the invariant mass distribution of two jets in the lepton+jets sample of tt̅ candidates. We observe no evidence of charged Higgs bosons in top quark decays. Hence, 95% upper limits on the top quark decay branching ratio are placed at B(t→H+b)< 0.1 to 0.3 for charged Higgs boson masses of 60 to 150 GeV/c2 assuming B(H+→cs̅ )=1.0. The upper limits on B(t→H+b) are also used as model-independent limits on the decay branching ratio of top quarks to generic scalar charged bosons beyond the standard model.Peer reviewe
Search for chargino-neutralino production in ppbar collisions at sqrt(s) = 1.96 TeV
We present the results of a search for associated production of the chargino
and neutralino supersymmetric particles using up to 1.1 fb-1 of integrated
luminosity collected by the CDF II experiment at the Tevatron ppbar collider at
a center-of-mass energy of 1.96 TeV. The search is conducted by analyzing
events with a large transverse momentum imbalance and either three charged
leptons or two charged leptons of the same electric charge. The numbers of
observed events are found to be consistent with standard model expectations.
Upper limits on the production cross section are derived in different
theoretical models. In one of these models a lower limit on the mass of the
chargino is set at 129 GeV/c^2 at the 95% confidence level.Comment: To be submitted to Phys.Rev.Let
Measurement of the ttbar Production Cross Section in ppbar collisions at sqrt s = 1.96 TeV in the All Hadronic Decay Mode
We report a measurement of the ttbar production cross section using the
CDF-II detector at the Fermilab Tevatron. The analysis is performed using 311
pb-1 of ppbar collisions at sqrt(s)=1.96 TeV. The data consist of events
selected with six or more hadronic jets with additional kinematic requirements.
At least one of these jets must be identified as a b-quark jet by the
reconstruction of a secondary vertex. The cross section is measured to be
sigma(tbart)=7.5+-2.1(stat.)+3.3-2.2(syst.)+0.5-0.4(lumi.) pb, which is
consistent with the standard model prediction.Comment: By CDF collaboratio
Measurement of the W+W- Production Cross Section in ppbar Collisions at sqrt(s)=1.96 TeV using Dilepton Events
We present a measurement of the W+W- production cross section using 184/pb of
ppbar collisions at a center-of-mass energy of 1.96 TeV collected with the
Collider Detector at Fermilab. Using the dilepton decay channel W+W- ->
l+l-vvbar, where the charged leptons can be either electrons or muons, we find
17 candidate events compared to an expected background of 5.0+2.2-0.8 events.
The resulting W+W- production cross section measurement of sigma(ppbar -> W+W-)
= 14.6 +5.8 -5.1 (stat) +1.8 -3.0 (syst) +-0.9 (lum) pb agrees well with the
Standard Model expectation.Comment: 8 pages, 2 figures, 2 tables. To be submitted to Physical Review
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