Search results for "Variant"
showing 10 items of 1267 documents
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
2010
We undertook a meta-analysis of six Crohn's disease genome-wide association studies (GWAS) comprising 6,333 affected individuals (cases) and 15,056 controls and followed up the top association signals in 15,694 cases, 14,026 controls and 414 parent-offspring trios. We identified 30 new susceptibility loci meeting genome-wide significance (P < 5 x 10(-8)). A series of in silico analyses highlighted particular genes within these loci and, together with manual curation, implicated functionally interesting candidate genes including SMAD3, ERAP2, IL10, IL2RA, TYK2, FUT2, DNMT3A, DENND1B, BACH2 and TAGAP. Combined with previously confirmed loci, these results identify 71 distinct loci with gen…
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
2013
Author version made available in accordance with the publisher's policy.
I canti popolari in Sicilia: una riflessione a margine di un incontro a Milena
2009
A partire da un corpus di canti popolari registrati a Milena (CL), si offre un quadro della dialettica tra oralità e scrittura, fra letteratura dialettale e poesia popolare, che caratterizza, in generale, i repertori etno-musicali dell’Isola. Talora la formalizzazione blocca questo percorso di continua rigenerazione testuale, ma altre volte è possibile confrontare varianti che hanno autori individuabili o contesti socio-economici ricostruibili.
Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys)
2018
IF 4.743 (2017); International audience; BackgroundRare genetic variants in TNNI3K encoding troponin-I interacting kinase have been linked to a distinct syndrome consisting primarily of supraventricular tachycardias and variably expressed conduction disturbance and dilated cardiomyopathy in 2 families.ObjectiveThe purpose of this study was to identify new genetic variants associated with inherited supraventricular tachycardias, cardiac conduction disease, and cardiomyopathy.MethodsWe conducted next generation sequencing in 3 independent multigenerational families with atrial/junctional tachycardia with or without conduction disturbance, dilated cardiomyopathy, and sudden death. We also asse…
Heterozygote Advantage Probably Maintains Rhesus Factor Blood Group Polymorphism: Ecological Regression Study
2016
Rhesus factor polymorphism has been an evolutionary enigma since its discovery in 1939. Carriers of the rarer allele should be eliminated by selection against Rhesus positive children born to Rhesus negative mothers. Here I used an ecologic regression study to test the hypothesis that Rhesus factor polymorphism is stabilized by heterozygote advantage. The study was performed in 65 countries for which the frequencies of RhD phenotypes and specific disease burden data were available. I performed multiple multivariate covariance analysis with five potential confounding variables: GDP, latitude (distance from the equator), humidity, medical care expenditure per capita and frequencies of smokers…
Rethinking the sGLOH Descriptor
2018
sGLOH (shifting GLOH) is a histogram-based keypoint descriptor that can be associated to multiple quantized rotations of the keypoint patch without any recomputation. This property can be exploited to define the best distance between two descriptor vectors, thus avoiding computing the dominant orientation. In addition, sGLOH can reject incongruous correspondences by adding a global constraint on the rotations either as an a priori knowledge or based on the data. This paper thoroughly reconsiders sGLOH and improves it in terms of robustness, speed and descriptor dimension. The revised sGLOH embeds more quantized rotations, thus yielding more correct matches. A novel fast matching scheme is a…
The cauchy problem for non-linear Klein-Gordon equations
1993
We consider in ℝ n+1,n≧2, the non-linear Klein-Gordon equation. We prove for such an equation that there is a neighbourhood of zero in a Hilbert space of initial conditions for which the Cauchy problem has global solutions and on which there is asymptotic completeness. The inverse of the wave operator linearizes the non-linear equation. If, moreover, the equation is manifestly Poincare covariant then the non-linear representation of the Poincare Lie algebra, associated with the non-linear Klein-Gordon equation is integrated to a non-linear representation of the Poincare group on an invariant neighbourhood of zero in the Hilbert space. This representation is linearized by the inverse of the …
Infinite lie groups of point transformations leaving invariant the linear equation which describes in the hodograph plane the isentropic one-dimensio…
1991
Abstract The group analysis of the hodograph equation which is equivalent to the non-linear system of one-dimensional isentropic gas dynamics reveals the existence of infinite groups of symmetry in correspondence with particular pressure laws. These turn out to be polytropes with selected indices, as is expected, as well as a new type of pressure. In all these cases the hodograph equation can be transformed, by a suitable change of variables, into the wave equationψ ζ = 0.
A Trajectory-Driven 3D Channel Model for Human Activity Recognition
2021
This paper concerns the design, analysis, and simulation of a 3D non-stationary channel model fed with inertial measurement unit (IMU) data. The work in this paper provides a framework for simulating the micro-Doppler signatures of indoor channels for human activity recognition by using radiofrequency-based sensing technologies. The major human body segments, such as wrists, ankles, torso, and head, are modelled as a cluster of moving point scatterers. We provide expressions for the time variant (TV) speed and TV angles of motion based on 3D trajectories of the moving person. Moreover, we present mathematical expressions for the TV Doppler shifts and TV path gains associated with each movin…
Levy flights in confining environments: Random paths and their statistics
2013
We analyze a specific class of random systems that are driven by a symmetric L\'{e}vy stable noise. In view of the L\'{e}vy noise sensitivity to the confining "potential landscape" where jumps take place (in other words, to environmental inhomogeneities), the pertinent random motion asymptotically sets down at the Boltzmann-type equilibrium, represented by a probability density function (pdf) $\rho_*(x) \sim \exp [-\Phi (x)]$. Since there is no Langevin representation of the dynamics in question, our main goal here is to establish the appropriate path-wise description of the underlying jump-type process and next infer the $\rho (x,t)$ dynamics directly from the random paths statistics. A pr…