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No description available.

In contrast to the fairly reliable and complete annotation of the protein coding genes in the human genome, comparable information is lacking for noncoding RNAs (ncRNAs). We present a comparative screen of vertebrate genomes for structural noncoding RNAs, which evaluates conserved genomic DNA sequences for signatures of structural conservation of base-pairing patterns and exceptional thermodynamic stability. We predict more than 30,000 structured RNA elements in the human genome, almost 1,000 of which are conserved across all vertebrates. Roughly a third are found in introns of known genes, a sixth are potential regulatory elements in untranslated regions of protein-coding mRNAs and about half are located far away from any known gene. Only a small fraction of these sequences has been described previously. A comparison with recent tiling array data shows that more than 40% of the predicted structured RNAs overlap with experimentally detected sites of transcription. The widespread conservation of secondary structure points to a large number of functional ncRNAs and cis-acting mRNA structures in the human genome.

Introduction La traite transatlantique, du 15ième au 19ième siècle, a changé radicalement la démographie des Amériques. Des milliers d'esclaves africains ont réussi à échapper aux plantations des colonisateurs européens, et ont formé des colonies indépendantes de peuples libres (ou 'Marron'). Dans notre travail, nous étudions quatre communautés Noir Marron de la Guyane française et du Surinam, ainsi que d'autres populations ayant un héritage africain : Brésil et Colombie, ainsi que des populations d'Afrique de l'Ouest : Bénin, Côte-d'Ivoire et Mali. Afin de définir les différentes histoires démographiques, ces populations ont été caractérisées à l'aide de plusieurs marqueurs génétiques des lignées uniparentales: chromosome Y (17 Y-STR et 96 Y-SNP), ADN mitochondrial (génomes complet), et de données pan-génomiques (4,5 millions de SNP). Résultats Les ADN paternels et maternels ont mis en évidence différents modèles de biais sexuels dans les populations afro-brésiliennes et afro-colombiennes, ce qui suggère des comportements de mariages préférentiels. À l'opposé, les communautés Noir Marron présentent l'origine africaine la plus élevée pour tous les systèmes génétiques analysés (supérieure à 98%). Dans ces communautés, on note l'absence de flux génique avec les groupes non-africains, et également des coefficients de consanguinité très élevés. En accord avec les études linguistiques, les communautés Noir Marron montrent une origine géographique africaine associée aux royaumes historiques de l'Afrique de l'Ouest qui existaient au Bénin durant la traite des esclaves. En accord avec les études historiques, l'origine des afro-colombiens montre des liens génétiques avec la région de la Côte de l'Or, et celle des afro-brésiliens avec la région de l'Afrique centrale. Conclusions Cette étude fournit une importante information génétique sur les afro-américains et nous permet de reconstruire les liens brisés avec leur passé africain. Les communautés Noir Marron montrent une identité africaine très élevée, reliée au Golfe du Bénin. Les populations afro-brésiliennes et afro-colombiennes font apparaitre différentes histoires démographiques en raison de leur passé colonial différent. Confronté avec les études historiques, la génétique permet de mieux appréhender l'identité ethnique africaine sur les deux rives de l'Atlantique. / Background The transatlantic slave trade, from the 15th to the 19th centuries, changed dramatically the demography of the Americas. Thousands of enslaved Africans managed to escape from the plantations of European colonizers, and formed independent African settlements of free people (or 'Marron'). Here, we study four Noir Marron communities from French Guiana and Surinam, as well as other populations with noteworthy African heritage in Brazil and Colombia, and West African populations in Benin, Ivory Coast, and Mali. To uncover different population histories, these populations were specifically characterized using different genetic markers based on 17 Y-STRs, 96 Y-SNPs, whole mtDNA genome, and genome-wide SNP data (4.5 million autosomal SNP). Results Paternally and maternally inherited DNA highlighted different patterns of sex-biased gene flow in both Afro-Brazilian and Afro-Colombian populations that suggest different preferential marriage behaviours. In sharp contrast, the Noir Marron communities presented the highest African ancestry in all genetic systems analysed (above 98%). These communities have apparently a null gene flow with non-African groups, and also present elevated inbreeding coefficients. In good agreement with linguistic studies, the Noir Marron communities showed a biogeographical ancestry associated with historical West African Kingdoms that existed in modern Benin during the slave trade. Afro-Colombians indicated genetic ancestry linked with the Gold Coast region. While Afro-Brazilian genetic ancestry was linked with the West Central African region, also supported by historical research. Conclusions This study provides specific genetic information in African Americans and thereby helps us to reconstruct broken links with their African past. The Noir Marron communities revealed a remarkably high African identity, which is still linked to Bight of Benin region. The Afro-Brazilian and Afro-Colombian populations present different demographic histories because of their different colonial pasts. Within an appropriate historical framework, genetic ancestry can add further understanding of ethnicity in African populations throughout the Atlantic world.

An influence of variations in human genome is perceptible at a first glance on human itself to see differences between the individuals and entire populations. Also, behavior or probability of certain diseases are influenced in large way by differences at genome's level. This work presents methods for detecting variations in the human genome that were developed after an arose of the second-generation sequencing technologies. A new tool that combines read pair and split read methods, with information about a depth of coverage was also designed and implemented. The tool was tested on simulated and real data and compared with a reference outputs.

This masters thesis has a few objectives. One of them is to acquaint with the problems of genome engineering, especially with fragmentation of DNA, the macromolecule DNA, the methods for purification and separation of the nucleic acids, the enzymes used for modification of these acids, amplification and get to know with cluster and gradient analysis as well. The next aim is to peruse the existed application and compare it to the layout of the proposed application, that is the third aim. The last one from the objectives is the implementation and the report how was the application tested by the real data. The results will be discussed as well as the possibilities of the further extension.