33 research outputs found

    Integration of a recommender system into an online video streaming platform

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    The ultimate goal of this project is to develop a recommender system for the SmartVideo platform. The platform streams different content of local channels for the Grand Est Region of France to a large public. So, we aim to propose a solution to alleviate the data representation and data collection issue of recommender systems by adopting and adjusting the xAPI standard to fit our case of study and to be able to represent our usage data in a formal and consistent format. Then, we will propose and implement a bunch of recommendation algorithms that we are going to test in order to evaluate our developed recommender system.Le but ultime de ce projet est de développer un système de recommandation dédié à la plateforme SmartVideo de diffusion de vidéo en ligne. En effet, la plateforme met à disposition diverses contenus des chaînes locales de la région Grand Est du France. Alors, nous allons présenter une solution pour alléger le problème de représentation et de collecte de données d’usages par adopter et ajuster le standard xAPI pour représenter et collecter les données de façon simple et formelle. Ensuite, nous allons proposer et implanter des algorithmes de recommandation que nous allons les tester pour évaluer notre système de recommandation

    FANCA Gene Mutations in North African Fanconi Anemia Patients

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    Populations in North Africa (NA) are characterized by a high rate of consanguinity. Consequently, the proportion of founder mutations might be higher than expected and could be a major cause for the high prevalence of recessive genetic disorders like Fanconi anemia (FA). We report clinical, cytogenetic, and molecular characterization of FANCA in 29 North African FA patients from Tunisia, Libya, and Algeria. Cytogenetic tests revealed high rates of spontaneous chromosome breakages for all patients except two of them. FANCA molecular analysis was performed using three different molecular approaches which allowed us to identify causal mutations as homozygous or compound heterozygous forms. It included a nonsense mutation (c.2749C > T; p.Arg917Ter), one reported missense mutation (c.1304G > A; p.Arg435His), a novel missense variant (c.1258G > A; p.Asp409Glu), and the FANCA most common reported mutation (c.3788_3790delTCT; p.Phe1263del). Furthermore, three founder mutations were identified in 86.7% of the 22 Tunisian patients: (1) a deletion of exon 15, in 36.4% patients (8/22); (2), a deletion of exons 4 and 5 in 23% (5/22) and (3) an intronic mutation c.2222 + 166G > A, in 27.3% (6/22). Despite the relatively small number of patients studied, our results depict the mutational landscape of FA among NA populations and it should be taken into consideration for appropriate genetic counseling

    Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype

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    Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder due to a defect in the nucleotide excision repair (NER) DNA repair pathway, characterized by severe sunburn development of freckles, premature skin aging, and susceptibility to develop cancers at an average age of eight. XP is an example of accelerated photo-aging. It is a genetically and clinically heterogeneous disease. Eight complementation groups have been described worldwide. In Tunisia, five groups have been already identified. In this work, we investigated the genetic etiology in a family with an atypically mild XP phenotype. Two Tunisian siblings born from first-degree consanguineous parents underwent clinical examination in the dermatology department of the Charles Nicolle Hospital on the basis of acute sunburn reaction and mild neurological disorders. Blood samples were collected from two affected siblings after written informed consent. As all mutations reported in Tunisia have been excluded using Sanger sequencing, we carried out mutational analysis through a targeted panel of gene sequencing using the Agilent HaloPlex target enrichment system. Our clinical study shows, in both patients, the presence of achromic macula in sun exposed area with dermatological feature suggestive of Xeroderma pigmentosum disease. No developmental and neurological disorders were observed except mild intellectual disability. Genetic investigation shows that both patients were carriers of an homozygous T to C transition at the nucleotide position c.2333, causing the leucine to proline amino acid change at the position 778 (p.Leu778Pro) of the ERCC5 gene, and resulting in an XP-G phenotype. The same variation was previously reported at the heterozygous state in a patient cell line in Europe, for which no clinical data were available and was suggested to confer an XP/CS phenotype based on functional tests. This study contributes to further characterization of the mutation spectrum of XP in consanguineous Tunisian families and is potentially helpful for early diagnosis. It also indicates that the genotype-phenotype correlation is not always coherent for patients with mild clinical features. These data therefore suggest that targeted NGS is a highly informative diagnostic strategy, which can be used for XP molecular etiology determination

    Carotenoids and colour diversity of traditional and emerging Tunisian orange cultivars (Citrus sinensis (L.) Osbeck)

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    Citrus are among the most cultivated fruit crops worldwide and occupy a paramount importance in the Tunisian agricultural sector being one of the strategic products. Despite of that, little is known about the quality parameters of Tunisian sweet oranges and some cultivars have not been characterized yet. This work aims to study the coloration diversity of twenty-five Tunisian grown oranges by analyzing their total and individual carotenoids content and the relationship with CIELab color coordinates. Experimental results proved large diversity in the carotenoid composition of the studied juices. Maltaise demi-sanguine cultivar was distinguished from the rest due to its high content of ζ-carotene, lutein and total carotenoids. An unusual lycopene accumulation was detected in the juice of Meski Ahmer. The Tunisian grown Washington Navel cultivar ranked within the rich-carotenoids juices. In addition, significant negative correlations were found between lightness parameters (L*) and Hue angle (H) while they were positively related with redness attributes (a*). Furthermore, (all-E)-violaxanthin and ζ-carotene were both significantly correlated to yellow color intensity index (b*) while zeaxanthin and lutein were positively related to Chroma (C*) and (b*) indices. These findings are of interest since the carotenoids content and composition are directly related to color and citrus juice quality. The results obtained could be part in a selection program-guide of Tunisian cultivars and help to understand the physiological and biochemical bases of sweet orange coloration.This work was supported by the Tunisian Ministry of Higher Education and Scientific Research [Alternance scholarship, April-Juin 2015] and by research grants from Ministerio de Economía y Competitividad, Spain. Financial support from PROMETEO 2014/0027 (Generalitat Valenciana, Spain) is also acknowledged. M-J.R. and L.Z are members of the CaRed network (BIO2015-71703-REDT), and S.B.A., M-J.R. and L.Z are members of the EUROCAROTEN COST Action (CA15136).Peer reviewe

    Tunisian fig (

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    Introduction. Ficus carica L., well adapted to the Mediterranean climate, is ubiquitous in Tunisia. In spite of the large possibilities of its adaptation to the Tunisian climate, its cultivation remains traditional. In Tunisia, this species is represented by a large number of varieties which are facing genetic erosion. To save these genetic resources, we studied some of the Tunisian varieties using molecular markers. The aim of this analysis was to study the genetic diversity of some cultivars and to characterize them. Materials and methods. Six microsatellites were used to characterize 16 cultivars (Ficus carica L.) belonging to two fig tree collections in the south of Tunisia. Results. The molecular markers used appeared highly polymorphic in common fig trees since 4–12 alleles per locus and a mean of heterozygoty of 0.656 were scored. The resolving power (Rp) of the six microsatellites tested ranged from 2.12 to 3.87 for the 16 cultivars studied, showing a significant genetic diversity (Ht = 0.762). Genetic differentiation between geographical groups was low (Gst = 0.032). The factorial correspondence analysis showed no well-defined relation between the 16 cultivars and their geographical origin. The genotype patterns allowed us to discriminate all of the cultivars. Conclusion. The characterization of the accessions belonging to different varieties was possible, showing the power and efficiency of the molecular tools used

    A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa

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    Abstract Copy number variation (CNV) is considered as the most frequent type of structural variation in the human genome. Some CNVs can act on human phenotype diversity, encompassing rare Mendelian diseases and genomic disorders. The North African populations remain underrepresented in public genetic databases in terms of single-nucleotide variants as well as for larger genomic mutations. In this study, we present the first CNV map for a North African population using the Affymetrix Genome-Wide SNP (single-nucleotide polymorphism) array 6.0 array genotyping intensity data to call CNVs in 102 Tunisian healthy individuals. Two softwares, PennCNV and Birdsuite, were used to call CNVs in order to provide reliable data. Subsequent bioinformatic analyses were performed to explore their features and patterns. The CNV map of the Tunisian population includes 1083 CNVs spanning 61.443 Mb of the genome. The CNV length ranged from 1.017 kb to 2.074 Mb with an average of 56.734 kb. Deletions represent 57.43% of the identified CNVs, while duplications and the mixed loci are less represented. One hundred and three genes disrupted by CNVs are reported to cause 155 Mendelian diseases/phenotypes. Drug response genes were also reported to be affected by CNVs. Data on genes overlapped by deletions and duplications segments and the sequence properties in and around them also provided insights into the functional and health impacts of CNVs. These findings represent valuable clues to genetic diversity and personalized medicine in the Tunisian population as well as in the ethnically similar populations from North Africa

    CVD Graphene Electrode for Direct Electrochemical Detection of Double-Stranded DNA

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    Understanding and regulating DNA interactions with solvents and redox-active centers opens up new possibilities for improving electrochemical signals and developing adequate biosensors. This work reports the development of a modified indium tin oxide (ITO) electrode by chemical vapor deposition (CVD) of graphene for the detection of double-stranded DNA. The modified electrode shows a better electrical conductivity than ITO, as confirmed by electrochemical impedance spectroscopy (EIS), where a drastic decrease in the charge–transfer resistance, Rct, from ~320 to ~60 Ω was observed. Sequences of double-stranded genomic DNA with a different number of base pairs are evaluated through differential pulse voltammetry (DPV), using ferri/ferrocyanide ([Fe(CN)6]3−/4−) as a mediator in the solution. Variations in the electrochemical response of the [Fe(CN)6]3−/4− probe are observed after introducing redox inactive double-stranded DNA ions. The redox-active [Fe(CN)6]3−/4− probe serves as a scaffold to bring DNA into the graphene-modified ITO electrode surface, provoking an increase in the current and a change in the potential when the number of base pairs increases. These results are confirmed by EIS, which shows a variation in the Rct. The calibration of DPV intensity and Rct vs. DNA base pairs (bps) number were linear in the 495–607 bps range. The proposed method could replace the nucleic acid gel electrophoresis technique to determine the presence of a DNA fragment and quantify its size
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