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Artykuły w czasopismach na temat "Variation génomique"
LE MIGNON, G., Y. BLUM, O. DEMEURE, E. LE BIHAN-DUVAL, P. LE ROY i S. LAGARRIGUE. "Apports de la génomique fonctionnelle à la cartographie fine de QTL". INRAE Productions Animales 23, nr 4 (14.11.2010): 343–58. http://dx.doi.org/10.20870/productions-animales.2010.23.4.3313.
Pełny tekst źródłaLAGARRIGUE, S., i M. TIXIER-BOICHARD. "Nouvelles approches de phénotypage pour la sélection animale". INRAE Productions Animales 24, nr 4 (8.09.2011): 377–86. http://dx.doi.org/10.20870/productions-animales.2011.24.4.3271.
Pełny tekst źródłaBEAUMONT, C., O. ROUSSOT, N. MARISSAL-AVRY, P. MORMEDE, P. PRUNET i P. ROUBERTOUX. "Génétique et adaptation des animaux d’élevage : introduction". INRAE Productions Animales 15, nr 5 (15.12.2002): 343–48. http://dx.doi.org/10.20870/productions-animales.2002.15.5.3713.
Pełny tekst źródłaBIDANEL, J. P., D. BOICHARD i C. CHEVALET. "De la génétique à la génomique". INRAE Productions Animales 21, nr 1 (20.04.2008): 15–32. http://dx.doi.org/10.20870/productions-animales.2008.21.1.3372.
Pełny tekst źródłaMULSANT, P. "Glossaire général". INRAE Productions Animales 24, nr 4 (8.09.2011): 405–8. http://dx.doi.org/10.20870/productions-animales.2011.24.4.3273.
Pełny tekst źródłaOden, Élise. "La génomique équine : tour d’horizon des outils disponibles pour les applications actuelles et à venir". Le Nouveau Praticien Vétérinaire équine 17, nr 59 (2023): 48–53. http://dx.doi.org/10.1051/npvequi/2024005.
Pełny tekst źródłaSANCHEZ, Marie-Pierre, Valérie WOLF, Cécile LAITHIER, Mohammed EL JABRI, Éric BEUVIER, Odile ROLET-RÉPÉCAUD, Nicolas GAUDILLIÈRE i in. "Analyse génétique de la « fromageabilité » du lait de vache prédite par spectrométrie dans le moyen infrarouge en race Montbéliarde". INRAE Productions Animales 32, nr 3 (29.11.2019): 379–98. http://dx.doi.org/10.20870/productions-animales.2019.32.3.2950.
Pełny tekst źródłaNemos, C., A. C. Bursztejn i P. Jonveaux. "Gestion des variations du nombre de séquences génomiques (CNV) en génétique humaine constitutionnelle utilisant l’hybridation génomique comparative en microréseau d’ADN (HGCM)". Pathologie Biologie 56, nr 6 (wrzesień 2008): 354–61. http://dx.doi.org/10.1016/j.patbio.2008.03.015.
Pełny tekst źródłaBROCHARD, M., K. DUHEN i D. BOICHARD. "Dossier "PhénoFinlait : Phénotypage et génotypage pour la compréhension et la maîtrise de la composition fine du lait"". INRAE Productions Animales 27, nr 4 (21.10.2014): 251–54. http://dx.doi.org/10.20870/productions-animales.2014.27.4.3071.
Pełny tekst źródłaLE BIHAN-DUVAL, E., C. BERRI, F. PITEL, J. NADAF, V. SIBUT, V. GIGAUD i M. DUCLOS. "Approches combinées de génomique positionnelle et expressionnelle pour l’étude des gènes contrôlant la qualité de la viande chez les volailles". INRAE Productions Animales 21, nr 2 (23.06.2008): 159–66. http://dx.doi.org/10.20870/productions-animales.2008.21.2.3389.
Pełny tekst źródłaRozprawy doktorskie na temat "Variation génomique"
Hallin, Johan Henning. "Élucider les facteurs génétiques à l'origine de la variabilité des populations par phénomique et génomique de masse". Thesis, Université Côte d'Azur (ComUE), 2018. http://www.theses.fr/2018AZUR4010/document.
Pełny tekst źródłaThe phenotypic variation between individuals in a population is of crucial importance. It allows populations to evolve to novel conditions by the natural selection of beneficial traits. Variation in traits can be caused by genetic or environmental factors. This work endeavors to study the genetic factors that underlie phenotypic variation in order to understand how variation can be created from one generation to the next; to know what genetic mechanisms are most prominent; to learn how variation can extend beyond the parents; and finally, to use this in order to predict phenotypes of unknown genetic constellations. We used large scale phenomics and genomics to give an unprecedented decomposition of the phenotypic variation in a large population of diploid Saccharomyces cerevisiae strains. Constructing phased outbred lines by large scale crosses of sequenced haploid strains allowed us to infer the genetic makeup of more than 7,000 colonies. We measured the growth of these strains and decomposed the phenotypic variation into its genetic components. In addition, we mapped additive and nonadditive quantitative trait loci, we investigated the occurrence of heterosis and its genetic basis, and using the same populations we used phenotypic and genetic data to predict traits with near perfect accuracy. By using the phased outbred line approach, we succeeded in giving a conclusive account of what genetic factors define phenotypic variation in a diploid population, and in accurately predicting phenotypes from genetic and phenotypic data. Beyond the phased outbred line project, I am currently investigating the genetic basis of gamete inviability and complex traits in intraspecies yeast hybrids. Using 9,000 sequenced gametes from six different hybrids we aim to characterize their recombination landscape and how the genetic background influences it. Furthermore, we have phenotyped these gametes in nine conditions and will dissect the genetic architecture of these traits across multiple genomic backgrounds
Hallin, Johan Henning. "Élucider les facteurs génétiques à l'origine de la variabilité des populations par phénomique et génomique de masse". Electronic Thesis or Diss., Université Côte d'Azur (ComUE), 2018. http://www.theses.fr/2018AZUR4010.
Pełny tekst źródłaThe phenotypic variation between individuals in a population is of crucial importance. It allows populations to evolve to novel conditions by the natural selection of beneficial traits. Variation in traits can be caused by genetic or environmental factors. This work endeavors to study the genetic factors that underlie phenotypic variation in order to understand how variation can be created from one generation to the next; to know what genetic mechanisms are most prominent; to learn how variation can extend beyond the parents; and finally, to use this in order to predict phenotypes of unknown genetic constellations. We used large scale phenomics and genomics to give an unprecedented decomposition of the phenotypic variation in a large population of diploid Saccharomyces cerevisiae strains. Constructing phased outbred lines by large scale crosses of sequenced haploid strains allowed us to infer the genetic makeup of more than 7,000 colonies. We measured the growth of these strains and decomposed the phenotypic variation into its genetic components. In addition, we mapped additive and nonadditive quantitative trait loci, we investigated the occurrence of heterosis and its genetic basis, and using the same populations we used phenotypic and genetic data to predict traits with near perfect accuracy. By using the phased outbred line approach, we succeeded in giving a conclusive account of what genetic factors define phenotypic variation in a diploid population, and in accurately predicting phenotypes from genetic and phenotypic data. Beyond the phased outbred line project, I am currently investigating the genetic basis of gamete inviability and complex traits in intraspecies yeast hybrids. Using 9,000 sequenced gametes from six different hybrids we aim to characterize their recombination landscape and how the genetic background influences it. Furthermore, we have phenotyped these gametes in nine conditions and will dissect the genetic architecture of these traits across multiple genomic backgrounds
Brachi, Benjamin. "Étude de la variation naturelle de traits phénologiques chez Arabidopsis thaliana par une approche de génomique écologique". Thesis, Lille 1, 2010. http://www.theses.fr/2010LIL10112/document.
Pełny tekst źródłaTwo complementary approaches need to be considered in the study of adaptation. The first approach aims at describing the genetic architectures and the genetic bases of phenotypic variation in order to better understand the adaptive walk followed by natural populations toward a phenotypic optimum. The second approach aims to identify the environmental grain of the ecological factors acting as selective pressures in natural populations. In this work we studied the natural variation of phenological traits in Arabidopsis thaliana. We used a powerful combination of genome wide association (GWA) mapping and traditional QTL mapping to fine map the genetics of phenological traits measured under two environments. This dual mapping strategy revealed a strong environmental dependency of both allelic effect and identity of the genes underlying natural variation, but also that natural A. thaliana populations may have followed different adaptive walks. A. thaliana populations were sampled according a hierarchical geographic pattern and characterized ecologically, phenologically and genetically. This strategy revealed that phenological traits were adaptive to fine-grained environmental conditions defined by both climate and soil conditions. In the study of the adaptive walks followed by A. thaliana natural populations, this two sided approach, combining both genomics and ecology, suggests that the description of the genetic architectures and the identification of causal genes should be performed at different spatial scales, following a hierarchical geographic design, and that phenotypes must be measured in ecologically realistic conditions
Perreault-Payette, Alysse. "Génomique des populations et association génotype-phénotype des écotypes de touladi du Lac Supérieur". Master's thesis, Université Laval, 2016. http://hdl.handle.net/20.500.11794/27107.
Pełny tekst źródłaUnderstanding the emergence and maintenance of sympatric ecotypes adapted to various trophic niches is a central topic in evolutionary biology, and also has implications for conservation and management. Lake Trout (Salvelinus namaycush) is renowned for the occurrence of phenotypically distinct ecotypes linked to resource and habitat use throughout North America. A total of four ecotypes have been described in Lake Superior that differ in terms of habitat, diet, morphology and osteology. The principal objective of this study was to quantify the extent of genetic differentiation among sampling sites and among ecotypes. The secondary objective was to identify markers potentially under divergent selection among the four ecotypes that may underlie local adaptation. To this end, a total of 486 individuals were genotyped at 6822 SNPs (single nucleotide polymorphism). In addition, these analyses were conducted alongside morphometric analyses to characterise the extent of morphological divergence among ecotypes within each sampling site. Results reveal that overall genetic differentiation is weak and is higher among sites than among ecotypes within each site. Moreover, we found evidence for divergent selection among ecotypes, and in some instances in association with morphological variation. These markers represent ecologically important traits linked to ecotype divergence. Results from this study will benefit management and conservation practices, and will guide the choice of source populations for stocking in the Great Lakes.
Petit, Morgane. "Etude des patrons de recombinaison, de leur déterminisme génétique et de leurs impacts en sélection génomique". Thesis, Toulouse, INPT, 2017. http://www.theses.fr/2017INPT0083/document.
Pełny tekst źródłaGenetic recombination is a fundamental biological process, which occurs during the meiosis. It allows the good segregation of the chromosomes and contributes to maintain the genetic diversity. Recombination was already studied in a lot of different species, especially in mammals and in farm animals, such as the pig, the cattle or the sheep. In each case, a variation of the recombination rate between the individuals was observed. This variation was heritable and under genetic determinism. In some species, genetic recombination maps were also created, which allowed to localize the crossovers and to detect really tiny genomic regions where the recombination is huge: the recombination hotspots. In the Lacaune breed sheep, a lot of genotyping data are available thanks to two existing arrays: a first with a medium density of markers (about 54,000 markers) and a second with a high density of markers (about 600,000 markers). Two datasets were thus available: a familial dataset with about 6,000 animals genotyped for the 54,000 markers and a dataset of 70 unrelated Lacaune genotyped for the 600,000 markers. Genetic recombination maps were created for these two datasets. With the 70 unrelated Lacaune, about 50,000 hotspots were detected. The familial dataset allowed to observe the mammals common recombination patterns. Finally, when the two datasets were combined, selection signatures were revealed and a high density recombination map were created. Furthermore, a variation of the recombination rate within the individuals was observed and was associated to 2 main QTLs on the chromosomes 6 and 7. Already known, or not, candidate genes were proposed and sometimes studied: especially RNF212 and HEI10. Finally, a comparison with another sheep breed revealed that the genetic recombination maps were really similar, but the individual recombination rate was under a different genetic determinism. A concrete application of the genetic recombination map in genomic selection was also proposed thanks to the creation of lowdensity SNPs sets, which could be used to impute the animals and thus to improve the genotyping and the genomic selection for lessercosts
Lemor, Mélanie. "Influence de la variation de la concentration intracellulaire des désoxyribonucléotides et rubbonucléotides sur la stabilité génomique chez Pyrococcus abyssi". Thesis, Brest, 2017. http://www.theses.fr/2017BRES0097/document.
Pełny tekst źródłaIn the three domains of life that include Bacteria, Eukarya and Archaea, one molecule has the sovereign ability to govern life, and not the least one, the mother of all biological mechanisms, DNA. Maintaining the integrity of genomes is obviously essential for life, and faithful DNA replication and repair are the guarantees. The fidelity of these two processes may vary depending on the availability and levels (balance and ratio) of deoxyribonucleotides (dNTPs) and ribonucleotides (rNTPs) during the cell-cycle. Even if intracellular concentration of nucleotides is largely documented in Eukarya and Bacteria, it remains limited in Archaea. From many years one group of Archaea is of great interest for studying genomic maintenance, because of its ability to survive in extremes environments. Pyrococcus abyssi is one of them that is used as biological model for deciphering the stability of DNA at elevated temperature in LM2E. The present work focuses on genomic integrity and particularly on the functional characterization of the three DNA polymerases: PolD, PolB and the p41/p46 complex. Initially, the nucleotide pool has been evaluated in exponentially growing cells using the highly sensitive method that combined chromatography and mass spectrometry (zicHILIC-MS-MS). The results show that rNTPs content is 20-fold higher than dNTPs. For that reason, fidelities of DNA polymerases are challenged to select the correct dNTP over the most abundant rNTP during DNA synthesis. Despite the fact that some mechanisms allow the exclusion of rNTPs from entry to the Pol active site, recent findings indicate that ribonucleotides are incorporated by different DNA Pols with surprisingly high frequency. In this work, the obtained intracellular balance and ratio of rNTPs and dNTP have been used to analyze their effect on DNA synthesis by P. abyssi DNA Pols and cell-free extracts. Our results clearly demonstrate that rNTP incorporation is detectable with distinct efficiencies among DNA pols. Secondly, the consequences of the presence of rNMPs in a DNA template on DNA polymerisation has been examined and highlights that cell-free extracts are able to bypass a single rNMP as well as replicative DNA polymerases. To strengthen that study, single nucleotide incorporation opposite rNMP or dNMP has been carried out and the results demonstrate that replicative Pyrococcus abyssi DNA Pols can basepair the complementary rNTPs opposite dNMPs, and vice-versa, the complementary dNTPs opposite rNMPs.Furthermore, the preliminary results obtained about the nucleolysis activities of the PolD small subunit, DP1, show that the DNA polymerase D is able to remove rNMPs from a DNA strand, suggesting a first level of protection against ribonucleotide contamination of DNA. Definitely, these data indicate that the presence of transient embedded rNMPs in genomic DNA represents a universally conserved phenomenon across Archaea, Bacteria and Eukarya
Flutre, Timothée. "L'annotation des éléments transposables par la compréhension de leur diversification". Phd thesis, Université Paris-Diderot - Paris VII, 2010. http://tel.archives-ouvertes.fr/tel-00560242.
Pełny tekst źródłaDelahaye-Duriez, Andrée. "Identification de nouveaux gènes impliqués dans des maladies ophtalmologiques rares en utilisant la CGH-array". Paris 7, 2011. http://www.theses.fr/2011PA077066.
Pełny tekst źródłaThe karyotype detects a chromosomal anomaly in 7. 7% to 10% of neonates with ocular birth defect. The introduction of microarray technology showed a very high rate of rearrangements below the resolution of karyotyping. My objectives in this work were to characterize using comparative genome hybridisation-based microarray analysis (array-CGH) chromosomal regions involved in rare ophthalmologic disorders, and then to identify new genes. In the first part of my work, we performed array-CGH in 65 patients presenting syndromal ocular developmental anomalies. A causal or potentially causal anomaly was found for 15% of them. Four had a pathogenic deletion involving a gene known to be involved in ocular anomalies (FOXC1 or OTX2}, while 4 others had a pathogenic deletion not classically associated with ocular malformations: del(17)(pl3. 3p!3. 3), del(10)(pl4p!5. 3) and del(16)(pl 1. 2pl 1. 2). In collaboration with other teams, we gathered patients to study genotype-phenotype correlations for 6p25 and 17pl3. 3 deletions. The second part of my work focused on a candidate gene study: ARHGEF26. Sequencing this gene in other patients with similar phenotype and studying the index patient family segregation, we could not demonstrate the ARHGEF26 involvement in this phenotype. This second part highlights the limits and difficulties of gene identification using array-CGH. These results demonstrate that array-CGH-based chromosomal analysis, beyond its importance for diagnosis and genetic counselling, can help to establish new genotype-phenotype correlations for chromosomal anomalies as well as identify potential new regions involved in rare ophthalmologic disorders
Lalagüe, Hadrien. "Genetic response of tree population to spatial climatic variation : an experimental genomic and simulation approach in Fagus sylvatica populations along altitudinal gradients". Thesis, Montpellier 2, 2013. http://www.theses.fr/2013MON20042/document.
Pełny tekst źródłaA major challenge in population genetics is to understand the local adaptation process in natural population and so to disentangle the various evolution forces contributing to local adaptation. The experimental studies on local adaption generally resort to altitudinal gradients that are characterized by strong environmental changes across short spatial scales. Under such condition, the genetic differentiation of the functional trait (measured by the Qst) as well as the genes coding for trait (measured by Fstq) are expected to be mainly driven by selection and gene flow. Genetic drift and mutation are expected to have minor effect. Theoretic studies showed a decoupling between Qst and Fst under strong gene flow and / or recent selection. In this study, I tested this hypothesis by combining experimental and modelling genomic approach in natural population of Fagus sylvatica separated by ~3 kilometres and under contrasted environments.Sampling was conducted in south-eastern France, a region known to have been recently colonised by F.sylvatica. Four naturally-originated populations were sampled at both high and low elevations along two altitudinal gradients. Populations along the altitudinal gradients are expected to be subjected to contrasting climatic conditions. Fifty eight candidate genes were chosen from a databank of 35,000 ESTs according to their putative functional roles in response to drought, cold stress and leaf phenology and sequenced for 96 individuals from four populations that revealed 581 SNPs. Classical tests of departure of site frequency spectra from expectation and outlier detection tests that accounted for the complex demographic history of the populations were used. In contrast with the mono-locus tests, an approach for detecting selection at the multi-locus scale have been tested.The results from experimental approaches were highly contrasted according the method highlighting the limits of those method for population loosely differentiated and spatially close. The modelling approach confirmed the results from the experimental data but revealed that up to 95% of the SNPs detected as outliers were false positive. The multi-locus approach revealed that the markers coding for the trait are differentially correlated compared to the neutral SNPs. But this approach failed to detect accurately the markers coding for the trait if no a priori knowledge is known about them. The modelling approach revealed that genetic changes may occur across very few generation. But while this genetic adaptation is measurable at the trait level, the available method for detecting genetic adaptation at the molecular level appeared to be greatly inaccurate. However, the multi-locus approach provided much more promise for understanding the genetic basis of local adaptation from standing genetic variation of forest trees in response to climate change
Khaiwal, Sakshi. "Prédire le paysage phénotypique naturel de la levure par machine learning". Electronic Thesis or Diss., Université Côte d'Azur, 2024. http://www.theses.fr/2024COAZ6003.
Pełny tekst źródłaThe study of complex traits is of central importance in various fields, including evolutionary biology, medicine, agriculture, etc. Understanding the genetic factors involved in controlling these traits can be of paramount significance. For example, most diseases-related traits are complex, and unraveling novel drug targets can lead to new and improved treatment methods. Similarly, in agriculture, the identification of genetic loci associated with traits of interest, such as yield, adaptability, and resistance, can help improve crop productivity and quality. The genetic variation present at the population level can greatly contribute to the variance in phenotypic traits. In this thesis, we study the population-level variation in more than 200 complex traits in a natural Saccharomyces cerevisiae collection comprising of 1,011 strains. The study can be divided into three main parts. In the first part, we describe the global correlation patterns among all 223 phenotypes, highlighting some unexpected correlations between unrelated phenotypes. Furthermore, we quantified the correlation between the genetic and phenotypic distances of the strains and its variations between the different clades. In the second part, we identify genetic markers associated with the 223 phenotypes using genome-wide association studies (GWAS). Moreover, we confirmed that the patterns observed at the phenome level of the population were reflected at the genomic level, with a higher number of significantly associated genetic variants being shared between the more correlated phenotypes and vice versa. Finally, the last part is focused on predicting the phenome from various genomic and phenomic data. We developed a machine learning pipeline (GenPhen) that implements the automatization of the hyperparameters optimization process during model learning to obtain the most optimized model for individual phenotypes. In addition, the pipeline can be used to implement four ML methods capable of learning linear to highly non-linear models. We provide a comparison of the ability of the different ML models to predict phenotypes and also different kinds of input predictors including the pangenome, Single Nucleotide Polymorphisms (SNPs), transcriptomic, proteomics, etc. Finally, we implemented multitarget machine learning models that can predict the entire phenome with overall accuracy comparable to that of individual phenotype predictions. Overall, we showed that predictions vary highly depending on the phenotype and that most of the traits were highly polygenic, i.e., they are controlled by a large number of genetic factors with very small effects. In general, our study provides insight into the usefulness of different machine learning methods for predicting complex phenotypes, comparison of different types of predictors for the prioritization of the experimental data required for predictions, and interpretation of ML models to understand the underlying biological mechanisms controlling a trait