|
|
|
| Registros recuperados: 14 | |
|
|
| Tongkobpetch,Siraprapa; Limpaphayom,Noppachart; Sangsin,Apiruk; Porntaveetus,Thantrira; Suphapeetiporn,Kanya; Shotelersuk,Vorasuk. |
| Abstract Osteogenesis imperfecta (OI) is genetically heterogeneous. Mutations in COL1A1 and COL1A2 are responsible for at least 90% of the cases, which are transmitted in an autosomal dominant manner or are de novo events. We identified a Thai boy with OI whose parents were first cousins. Because the proband was the product of a consanguineous marriage, we hypothesized that he might be homozygous for a mutation in a known gene causing a recessive form of OI. Using whole exome sequencing (WES), we did not find any pathogenic mutations in any known gene responsible for an autosomal recessive form of OI. Instead, we identified a COL1A1 frameshift mutation, c.1290delG (p.Gly431Valfs*110) in heterozygosis. By Sanger sequencing, the mutation was confirmed in the... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Osteogenesis imperfect; COL1A1; Exome sequencing; Next generation sequencing; Thai. |
| Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000500763 |
| |
|
|
| Molina,Lorrayne Gomes; Cordenonsi da Fonseca,Guilherme; Morais,Guilherme Loss de; de Oliveira,Luiz Felipe Valter; Carvalho,Joseane Biso de; Kulcheski,Franceli Rodrigues; Margis,Rogerio. |
| A large number of small RNAs unrelated to the soybean genome were identified after deep sequencing of soybean small RNA libraries. A metatranscriptomic analysis was carried out to identify the origin of these sequences. Comparative analyses of small interference RNAs (siRNAs) present in samples collected in open areas corresponding to soybean field plantations and samples from soybean cultivated in greenhouses under a controlled environment were made. Different pathogenic, symbiotic and free-living organisms were identified from samples of both growth systems. They included viruses, bacteria and different groups of fungi. This approach can be useful not only to identify potentially unknown pathogens and pests, but also to understand the relations that... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Next generation sequencing; Small RNA; SiRNA; Molecular markers. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000200010 |
| |
|
|
| Brusius-Facchin,Ana Carolina; Siebert,Marina; Leão,Delva; Malaga,Diana Rojas; Pasqualim,Gabriela; Trapp,Franciele; Matte,Ursula; Giugliani,Roberto; Leistner-Segal,Sandra. |
| Abstract Mucopolysaccharidosis (MPS) are a group of rare genetic disorders caused by deficiency in the activity of specific lysosomal enzymes required for the degradation of glycosaminoglycans (GAGs). A defect in the activity of these enzymes will result in the abnormal accumulation of GAGs inside the lysosomes of most cells, inducing progressive cellular damage and multiple organ failure. DNA samples from 70 patients with biochemical diagnosis of different MPSs genotypes confirmed by Sanger sequencing were used to evaluate a Next Generation Sequencing (NGS) protocol. Eleven genes related to MPSs were divided into three different panels according to the clinical phenotype. This strategy led to the identification of several pathogenic mutations distributed... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Lysosomal storage disease; Mucopolysaccharidoses; Next generation sequencing; Target sequence; Mutation detection. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200207 |
| |
|
|
| Chiarello, Marlene; Villeger, Sebastien; Bouvier, Corinne; Bettarel, Yvan; Bouvier, Thierry. |
| Animal-associated microbiotas form complex communities, which are suspected to play crucial functions for their host fitness. However, the biodiversity of these communities, including their differences between host species and individuals, has been scarcely studied, especially in case of skin-associated communities. In addition, the intraindividual variability (i.e. between body parts) has never been assessed to date. The objective of this study was to characterize skin bacterial communities of two teleostean fish species, namely the European seabass (Dicentrarchus labrax) and gilthead seabream (Sparus aurata), using a high-throughput DNA sequencing method. In order to focus on intrinsic factors of host-associated bacterial community variability,... |
| Tipo: Text |
Palavras-chave: Sparus aurata; Dicentrarchus labrax; Skin microbiome; Next generation sequencing; Phylogenetic diversity. |
| Ano: 2015 |
URL: https://archimer.ifremer.fr/doc/00277/38801/37547.pdf |
| |
|
| |
|
|
| SARZI,DEISE S.; JUSTOLIN,BEATRIZ; SILVA,CLARIANE DA; LEMOS,RAFAEL P.M.; STEFENON,VALDIR MARCOS. |
| Abstract: Eugenia uniflora L. (Myrtaceae) is a tree species widely distributed in South America suffering the effects of the exploitation of natural populations. In this study, we employed low coverage sequencing of the E. uniflora genome for mining of SSR markers. The de novo assembly generated 2,601 contigs with an average length of 1139 bp and spans 3.15 Mb. A total of 76 dimer, 33 trimer and two compound SSR loci were identified. Twelve selected SSR loci were employed to genotype 30 individuals from two natural populations. A total of 73 alleles were detected (mean A= 6.1) were observed, the mean effective number of alleles was Ae = 3.91, mean Ho was 0.23 and mean HE was 0.70). The mean Wright’s within population fixation index was FIS = 0.66 and... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Next generation sequencing; Pitanga; Population genetics; SSR; Surinam-cherry. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652019000100625 |
| |
|
|
| Berthet,Nicolas; Descorps-Declère,Stéphane; Nkili-Meyong,Andriniaina Andy; Nakouné,Emmanuel; Gessain,Antoine; Manuguerra,Jean-Claude; Kazanji,Mirdad. |
| BACKGROUND: New sequencing technologies have opened the way to the discovery and the characterization of pathogenic viruses in clinical samples. However, the use of these new methods can require an amplification of viral RNA prior to the sequencing. Among all the available methods, the procedure based on the use of Phi29 polymerase produces a huge amount of amplified DNA. However, its major disadvantage is to generate a large number of chimeric sequences which can affect the assembly step. The pre-process method proposed in this study strongly limits the negative impact of chimeric reads in order to obtain the full-length of viral genomes. FINDINGS: Three different assembly softwares (ABySS, Ray and SPAdes) were tested for their ability to correctly... |
| Tipo: Journal article |
Palavras-chave: RNA viral genome; Next generation sequencing; SPAdes; Assembling genome; Amplification with phi29 polymerase. |
| Ano: 2016 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602016000100039 |
| |
|
| |
|
| |
|
| |
|
|
| Simões-Araújo,Jean Luiz; Leite,Jakson; Marie Rouws,Luc Felicianus; Passos,Samuel Ribeiro; Xavier,Gustavo Ribeiro; Rumjanek,Norma Gouvêa; Zilli,Jerri Édson. |
| Abstract The strain BR 3262 was isolated from nodule of cowpea (Vigna unguiculata L. Walp) growing in soil of the Atlantic Forest area in Brazil and it is reported as an efficient nitrogen fixing bacterium associated to cowpea. Firstly, this strain was assigned as Bradyrhizobium elkanii, however, recently a more detailed genetic and molecular characterization has indicated it could be a Bradyrhizobium pachyrhizi species. We report here the draft genome sequence of B. pachyrhizi strain BR 3262, an elite bacterium used as inoculant for cowpea. The whole genome with 116 scaffolds, 8,965,178 bp and 63.8% of C+G content for BR 3262 was obtained using Illumina MiSeq sequencing technology. Annotation was added by the RAST prokaryotic genome annotation service and... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Atlantic forest area; Biological nitrogen fixation; Next generation sequencing; Nodulation. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1517-83822016000400783 |
| |
|
|
| Silva,Paula Renata Alves da; Simões-Araújo,Jean Luiz; Vidal,Márcia Soares; Cruz,Leonardo Magalhães; Souza,Emanuel Maltempi de; Baldani,José Ivo. |
| Abstract Paraburkholderia tropica (syn Burkholderia tropica) are nitrogen-fixing bacteria commonly found in sugarcane. The Paraburkholderia tropica strain Ppe8 is part of the sugarcane inoculant consortium that has a beneficial effect on yield. Here, we report a draft genome sequence of this strain elucidating the mechanisms involved in its interaction mainly with Poaceae. A genome size of approximately 8.75 Mb containing 7844 protein coding genes distributed in 526 subsystems was de novo assembled with ABySS and annotated by RAST. Genes related to the nitrogen fixation process, the secretion systems (I, II, III, IV, and VI), and related to a variety of metabolic traits, such as metabolism of carbohydrates, amino acids, vitamins, and proteins, were... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Diazotrophic; Next generation sequencing; Nitrogen-fixing; Secretion system. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1517-83822018000200210 |
| |
|
|
| Siqueira,Franciele Maboni; Cibulski,Samuel Paulo; Mayer,Fabiana Quoos; Driemeier,David; Pavarini,Saulo Petinatti; Vargas,Agueda Palmira Castagna de. |
| ABSTRACT Bacillus anthracis strain SPV842_15 was isolated from bovine fetus, while B. anthracis strain Brazilian vaccinal was recovered from a commercial vaccine. We report here the genome sequences of both strains. The SPV842_15 genome is composed of a single circular chromosome with a length of 5,228,664 base pairs, and comprises 5911 coding sequences. In turn, the Brazilian vaccinal genome remains in 201 contigs with 5733 coding sequences. Both genomes have an overall C + G content of 35.4%, and 11 genes encoding the ribosomal RNAs (rRNAs) 5S, 16S and 23S. Only the plasmid pX01 sequence, which carries genes for toxins synthesis, was detected and completely assembled for both strains. These plasmids have a length of 181,684 base pairs and a C + G content... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Anthrax; Vaccine pathogenicity; Bovine abortion; Next generation sequencing. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1517-83822018000100018 |
| |
|
| |
| Registros recuperados: 14 | |
|
|
|
