738 resultados para Annotation de génomes


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Background: Copy number variations (CNVs) have been shown to account for substantial portions of observed genomic variation and have been associated with qualitative and quantitative traits and the onset of disease in a number of species. Information from high-resolution studies to detect, characterize and estimate population-specific variant frequencies will facilitate the incorporation of CNVs in genomic studies to identify genes affecting traits of importance. Results: Genome-wide CNVs were detected in high-density single nucleotide polymorphism (SNP) genotyping data from 1,717 Nelore (Bos indicus) cattle, and in NGS data from eight key ancestral bulls. A total of 68,007 and 12,786 distinct CNVs were observed, respectively. Cross-comparisons of results obtained for the eight resequenced animals revealed that 92 % of the CNVs were observed in both datasets, while 62 % of all detected CNVs were observed to overlap with previously validated cattle copy number variant regions (CNVRs). Observed CNVs were used for obtaining breed-specific CNV frequencies and identification of CNVRs, which were subsequently used for gene annotation. A total of 688 of the detected CNVRs were observed to overlap with 286 non-redundant QTLs associated with important production traits in cattle. All of 34 CNVs previously reported to be associated with milk production traits in Holsteins were also observed in Nelore cattle. Comparisons of estimated frequencies of these CNVs in the two breeds revealed 14, 13, 6 and 14 regions in high (>20 %), low (<20 %) and divergent (NEL > HOL, NEL < HOL) frequencies, respectively. Conclusions: Obtained results significantly enriched the bovine CNV map and enabled the identification of variants that are potentially associated with traits under selection in Nelore cattle, particularly in genome regions harboring QTLs affecting production traits.

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In this seminar, I will share my experience in the early process of becoming an entrepreneur from a research background. Since 2008, I have been working with Prof. Mike Wald on an innovative video annotation tool called Synote. After about eight years of research around Synote, I have applied for the Royal Acadamy of Engineering Enterprise Fellowship in order to focus on developing Synote for real clients and making Synote sustainable and profitable. Now, it is already eight months into the fellowship, which has totally changed my life. It is very exciting, but at the same time I'm struggling all the time. The seminar will briefly go through my experience so far on the way of commercializing Synote from a research background. I will also discuss the valuable resources you can get from RAEng Enterprise Hub and Future Worlds, which is a Southampton based organization to help startups. If you are a Ph.D. student or research fellow in the University, and you want to start your own business, this is the seminar you want to attend.

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Resumo: 1 – Sumário do Acórdão do Supremo Tribunal de Justiça, de 19 de Abril de 2012; 2 – Texto completo do Acórdão do Supremo Tribunal de Justiça, de 19 de Abril de 2012: cfr. http://www.dgsi.pt/jstj.nsf/954f0ce6ad9dd8b980256b5f003fa814/fc664c231f3e73cf802579ea003d91d2?OpenDocument&Highlight=0,polui%C3%A7%C3%A3o , 2 de Junho de 2012; 3 – Anotação sintética; 3.1 – Introdução à anotação sintética e suas características neste caso concreto; 4 – Algumas referências constitucionais centrais em relação a Direitos humanos e, nomeadamente, a um Direito humano a um meio-ambiente sadio, saudável em todas as suas vertentes e sentidos – o exemplo central do artigo 9.º da CRP; 4.1 – Algumas referências constitucionais centrais em relação a Direitos humanos e, nomeadamente, a um Direito humano a um meio-ambiente sadio, saudável em todas as suas vertentes e sentidos – o exemplo central do artigo 66.º da CRP e o Regime Geral do Ruído; 5 – O direito humano ao descanso e à saúde, rectius o direito ao ambiente sadio vs o direito ao lazer e/ou exploração económica de indústrias de diversão, rectius o direito à liberdade de iniciativa económica privada; 6 – A violação do direito humano, de personalidade, ao descanso e à saúde, rectius o direito a um ambiente sadio, numa perspectiva de Direito privado e Direito civil; 7 – A criminalização da poluição, designadamente a criminalização da poluição sonora – uma perspectiva de Direito público e Direito penal; 8 - A necessidade duma adequada política tributária que compatibilize desenvolvimento sustentado com a protecção dum meio ambiente sadio e com qualidade de vida; 9 – Conclusões. Palavras-chave: Direitos Humanos; Direito constitucional; Direito público; Direito penal; Direito privado; Direito civil; Direito ambiental; meio ambiente sadio; Direito ao descanso; Direito à saúde; Direito ao lazer e/ou exploração económica de indústrias de diversão; direito à liberdade de iniciativa económica privada; Direito tributário; Direito fiscal; Direito aduaneiro. Abstract: 1 - Summary of the Judgment of the Supreme Court of April 19, 2012, 2 - Complete text of the Judgment of the Supreme Court of April 19, 2012: cf. http://www.dgsi.pt/jstj.nsf/954f0ce6ad9dd8b980256b5f003fa814/fc664c231f3e73cf802579ea003d91d2?OpenDocument&Highlight=0,polui%C3%A7%C3%A3o , June 2, 2012, 3 - Synthetic Note: 3.1 - Introduction to synthetic annotation and its characteristics in this case 4 - Some references constitutional power over human rights and in particular to a human right to a healthy environment, healthy in all its forms and meanings - the central example of Article 9. of CRP; 4.1 - Some references constitutional power over human rights and in particular to a human right to a healthy environment, healthy in all its forms and meanings - the central example of Article 66. No of CRP and the General Noise; 5 - the human right to rest and health, rectius the right to healthy environment vs. the right to leisure and / or economic exploitation of industries fun, rectius the right to freedom of private economic initiative; 6 - the violation of human personality, to rest and health, rectius the right to a healthy environment, a perspective of private law and civil law; 7 - criminalization of pollution, including the criminalization of noise - a perspective of public law and criminal law; 8 - the need for appropriate tax policy that reconciles sustainable development with the protection of a healthy environment and quality of life; 9 - Conclusions.