108 research outputs found

    Optimal bandwidth matrices in functional principal component analysis of density functions

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    In order to explore and compare a finite number T of data sets by applying functional principal component analysis (FPCA) to the T associated probability density functions, we estimate these density functions by using the multivariate kernel method. The data set sizes being fixed, we study the behaviour of this FPCA under the assumption that all the bandwidth matrices used in the estimation of densities are proportional to a common parameter h and proportional to either the variance matrices or the identity matrix. In this context, we propose a selection criterion of the parameter h which depends only on the data and the FPCA method. Then, on simulated examples, we compare the quality of approximation of the FPCA when the bandwidth matrices are selected using either the previous criterion or two other classical bandwidth selection methods, that is, a plug-in or a cross-validation method

    Identification of Sequence Variants in Genetic Disease-Causing Genes Using Targeted Next-Generation Sequencing

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    Identification of gene variants plays an important role in research on and diagnosis of genetic diseases. A combination of enrichment of targeted genes and next-generation sequencing (targeted DNA-HiSeq) results in both high efficiency and low cost for targeted sequencing of genes of interest.To identify mutations associated with genetic diseases, we designed an array-based gene chip to capture all of the exons of 193 genes involved in 103 genetic diseases. To evaluate this technology, we selected 7 samples from seven patients with six different genetic diseases resulting from six disease-causing genes and 100 samples from normal human adults as controls. The data obtained showed that on average, 99.14% of 3,382 exons with more than 30-fold coverage were successfully detected using Targeted DNA-HiSeq technology, and we found six known variants in four disease-causing genes and two novel mutations in two other disease-causing genes (the STS gene for XLI and the FBN1 gene for MFS) as well as one exon deletion mutation in the DMD gene. These results were confirmed in their entirety using either the Sanger sequencing method or real-time PCR.Targeted DNA-HiSeq combines next-generation sequencing with the capture of sequences from a relevant subset of high-interest genes. This method was tested by capturing sequences from a DNA library through hybridization to oligonucleotide probes specific for genetic disorder-related genes and was found to show high selectivity, improve the detection of mutations, enabling the discovery of novel variants, and provide additional indel data. Thus, targeted DNA-HiSeq can be used to analyze the gene variant profiles of monogenic diseases with high sensitivity, fidelity, throughput and speed

    Association between Regulator of G Protein Signaling 9–2 and Body Weight

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    Regulator of G protein signaling 9–2 (RGS9–2) is a protein that is highly enriched in the striatum, a brain region that mediates motivation, movement and reward responses. We identified a naturally occurring 5 nucleotide deletion polymorphism in the human RGS9 gene and found that the mean body mass index (BMI) of individuals with the deletion was significantly higher than those without. A splicing reporter minigene assay demonstrated that the deletion had the potential to significantly decrease the levels of correctly spliced RGS9 gene product. We measured the weights of rats after virally transduced overexpression of RGS9–2 or the structurally related RGS proteins, RGS7, or RGS11, in the nucleus accumbens (NAc) and observed a reduction in body weight after overexpression of RGS9–2 but not RGS7 or 11. Conversely, we found that the RGS9 knockout mice were heavier than their wild-type littermates and had significantly higher percentages of abdominal fat. The constituent adipocytes were found to have a mean cross-sectional area that was more than double that of corresponding cells from wild-type mice. However, food intake and locomotion were not significantly different between the two strains. These studies with humans, rats and mice implicate RGS9–2 as a factor in regulating body weight.National Institute of Mental Health (U.S.) (R41MH78570 award)National Center for Research Resources (U.S.) (Rhode Island IDeA Network of Biomedical Research Excellence (RI-INBRE) Award P20RR016457-10

    Caractéristiques d'exploitation des gazoducs en Algérie de 1976 à 1980 Operational Characteristics for Gas Pipelines in Algeria from 1976 to 1980

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    Les caractéristiques principales de fonctionnement des gazoducs sont présentés sous forme de trois paramètres obtenus par traitement informatique des données d'exploitation. Ces paramètres caractérisent l'irrégularité d'exploitation, la tendance de développement et le niveau d'utilisation des gazoducs pour une période donnée. A titre d'exemple, cette analyse est appliquée au fonctionnement de trois gazoducs reliant Hassi-R'Mel à Arsew (24 et 40 ) et à Skikda (40 ) pendant la période 1976-1980. The leading operational characteristics for gas pipelines are described in the form of three parameters obtained by processing operational data. These parameters characterize operational irregularity, the growth trend and the level of pipelines use for a given period of time. As an example, this analysis is applied to the operation of three gas pipelines running from Hassi-R'Mel to Arzew (24 and 40 ) and Skikda (40 ) during the period from 1976 to 1980
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