Search results for "mapping"
showing 10 items of 1508 documents
Comparative genomic sequencing reveals a strikingly similar architecture of a conserved syntenic region on human chromosome 11p15.3 (including gene S…
2001
Comparative genomics is a superior way to identify phylogenetically conserved features like genes or regions involved in gene regulation. The comparison of extended orthologous chromosomal regions should also reveal other characteristic traits essential for chromosome or gene function. In the present study we have sequenced and compared a region of conserved synteny from human chromosome 11p15.3 and mouse chromosome 7. In human, this region is known to contain several genes involved in the development of various disorders like Beckwith-Wiedemann overgrowth syndrome and other tumor diseases. Furthermore, in the neighboring chromosome region 11p15.5 extensive imprinting of genes has been repo…
FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates
2000
Accumulating evidence suggests that haploinsufficiency of a dosage-sensitive gene(s) in human chromosome 9p24.3 is responsible for the failure of testicular development and feminisation in XY patients with monosomy for 9p. We have used molecular cytogenetic methods to characterise the sex-reversing 9p deletions in two XY females. Fluorescence in situ hybridisation (FISH) with YACs from the critical 9p region containing an evolutionarily conserved sex-determining gene, DMRT1, is a very fast and reliable assay for patient screening. Comparative YAC mapping on great ape and Old and New World monkey chromosomes demonstrated that the critical region was moved from an interstitial position on the…
Functional correlate and delineated connectivity pattern of human motion aftereffect responses substantiate a subjacent visual-vestibular interaction.
2018
The visual motion aftereffect (MAE) is the most prominent aftereffect in the visual system. Regarding its function, psychophysical studies suggest its function to be a form of sensory error correction, possibly also triggered by incongruent visual-vestibular stimulation. Several observational imaging experiments have deducted an essential role for region MT+ in the perception of a visual MAE but not provided conclusive evidence. Potential confounders with the MAE such as ocular motor performance, attention, and vection sensations have also never been controlled for. Aim of this neuroimaging study was to delineate the neural correlates of MAE and its subjacent functional connectivity pattern…
The frontal agranular cortex and the organization of purposeful movements
1985
A critical review of the traditional concepts of cortical association and motor areas is followed by a description of the functional organization and intrinsic and extrinsic cortical connectivity of the arcuate premotor area (APA). It is concluded that the frontal cortical organization of externally triggered purposeful movements is made possible by the associative character of Brodmann's area 6 and by its peculiar pattern of intra-areal connectivity.
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
2013
International audience; Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 1.0 × 10(-4)). In a replication phase, we combined these data with previous genome-wide association study (GWAS) data from an independent 14,802 subjects with multiple sclerosis and 26,703 healthy controls. In these 80,094 individuals of European ancestry, we identified 48 new susceptibility variants (P < 5.0 × 10(-8)), 3 of which we found after conditioning on previously identified variants. Thus, there are now 110 established multiple sclerosis risk variant…
Assessing directional interactions among multiple physiological time series: The role of instantaneous causality
2012
This paper deals with the assessment of frequency domain causality in multivariate (MV) time series with significant instantaneous interactions. After providing different causality definitions, we introduce an extended MV autoregressive modeling approach whereby each definition is described in the time domain in terms of the model coefficients, and is quantified in the frequency domain by means of novel measures of directional connectivity. These measures are illustrated in a theoretical example showing how they reduce to known indexes when instantaneous causality is trivial, while they describe peculiar aspects of directional interaction in the presence of instantaneous causality. The appl…
On the use of adaptive spatial weight matrices from disease mapping multivariate analyses
2020
Conditional autoregressive distributions are commonly used to model spatial dependence between nearby geographic units in disease mapping studies. These distributions induce spatial dependence by means of a spatial weights matrix that quantifies the strength of dependence between any two neighboring spatial units. The most common procedure for defining that spatial weights matrix is using an adjacency criterion. In that case, all pairs of spatial units with adjacent borders are given the same weight (typically 1) and the remaining non-adjacent units are assigned a weight of 0. However, assuming all spatial neighbors in a model to be equally influential could be possibly a too rigid or inapp…
Probabilistic Flood Hazard Mapping Using Bivariate Analysis Based on Copulas
2017
This study presents a methodology to extract probabilistic flood hazard maps in an area subject to flood risk, taking into account uncertainties in the definition of design hydrographs. Particularly, the authors present a new method to produce probabilistic inundation and flood hazard maps in which the hydrological input (i.e., synthetic flood design event) to a 2D hydraulic model has been obtained by using a bivariate statistical analysis (copulas) to generate flood peak discharges and volumes. This study also aims to quantify the contribution of boundary conditions’ uncertainty in order to evaluate the effect of this uncertainty source on probabilistic flood hazard mapping. Different comb…
Estimating brain connectivity when few data points are available: Perspectives and limitations
2017
Methods based on the use of multivariate autoregressive modeling (MVAR) have proved to be an accurate and flexible tool for the estimation of brain functional connectivity. The multivariate approach, however, implies the use of a model whose complexity (in terms of number of parameters) increases quadratically with the number of signals included in the problem. This can often lead to an underdetermined problem and to the condition of multicollinearity. The aim of this paper is to introduce and test an approach based on Ridge Regression combined with a modified version of the statistics usually adopted for these methods, to broaden the estimation of brain connectivity to those conditions in …
Adaptive independent vector analysis for multi-subject complex-valued fMRI data.
2017
Abstract Background Complex-valued fMRI data can provide additional insights beyond magnitude-only data. However, independent vector analysis (IVA), which has exhibited great potential for group analysis of magnitude-only fMRI data, has rarely been applied to complex-valued fMRI data. The main challenges in this application include the extremely noisy nature and large variability of the source component vector (SCV) distribution. New method To address these challenges, we propose an adaptive fixed-point IVA algorithm for analyzing multiple-subject complex-valued fMRI data. We exploited a multivariate generalized Gaussian distribution (MGGD)- based nonlinear function to match varying SCV dis…