Search results for "genomics"
showing 10 items of 1255 documents
Análisis transcriptómico del daño por frío en fruto de melocotón
2016
En la industria hortofrutícola las bajas temperaturas se utilizan para retrasar la maduración y el decaimiento de los frutos. A pesar de tener un uso extendido, los frutos de melocotón sometidos a almacenamiento prolongado en frío (CS) a menudo desarrollan una forma de daño por frío (CI) genéticamente controlada llamada harinosidad (mealiness/woolliness [WLT]): un desorden textural de la pulpa del fruto caracterizado por la perdida de suculencia Aunque durante el frío se han observado algunas alteraciones microscópicas, los síntomas visibles o macroscópicos de daño se desarrollan, no obstante, cuando los frutos se transfieren a temperatura ambiente (temperaturas de simulación de vida útil, …
Evolution and comparative genomics of di-symbiotic systems in aphids from the Lachninae subfamily and genome reduction in Serratia symbiotica
2016
Ph.D. thesis presented by Alejandro Manzano Marín Director: Prof. Dr. Amparo Latorre Castillo Institution: Universiat de València
Development of Artificial Intelligence Methods for Clinical Genomics
2022
El presente trabajo de investigación se centra en la identificación de puntos de majora de los actuales sistemas de análisis genético y de recuento cellular para laboratorio. Analiza las diferentes metodologías existentes a través de encuestas a expertos, investigación bibliográfica y experimentos comparativos. Posteriormente propone varias metodologías mejoradas para recuento celular basadas en inteligencia artificial aplicada al análisis de imágen y para automatización de análisis genéticos en sistemas de secuenciación masiva NGS. El trabajo también propone varias optimizaciones para interpretación de variantes genéticas mediante inteligencia artificial a partir de una variación de la met…
Genome and phenotype microarray analyses of rhodococcus sp. BCP1 and rhodococcus opacus R7: Genetic determinants and metabolic abilities with environ…
2015
In this paper comparative genome and phenotype microarray analyses of Rhodococcus sp. BCP1 and Rhodococcus opacus R7 were performed. Rhodococcus sp. BCP1 was selected for its ability to grow on short-chain n-alkanes and R. opacus R7 was isolated for its ability to grow on naphthalene and on o-xylene. Results of genome comparison, includ- ing BCP1, R7, along with other Rhodococcus reference strains, showed that at least 30% of the genome of each strain presented unique sequences and only 50% of the predicted proteome was shared. To associate genomic features with metabolic capabilities of BCP1 and R7 strains, hundreds of different growth conditions were tested through Phenotype Microarray, b…
EPIGENOMICS AND METABOLOMICS MECHANISMS FOR A GENE X DIET INTERACTION MODULATING AGE-RELATED OBESITY
2018
A functional variant in the apolipoprotein AII (APOA2) gene (rs5082) predisposes homozygous carriers to age-related obesity when habitual saturated fat (SFA) intake is high. We used epigenomics, transcription and metabolomics analyses to identify currently unknown mechanisms underlying this well-replicated gene x diet interaction. We conducted an epigenome-wide scan to compare genetically at-risk to low-risk individuals with low (<22 g/d) or high (≥22 g/d) SFA intake in the Boston Puerto Rican Health Study and validated the findings in the GOLDN Study and the Framingham Heart Study. In these three populations, we identified genotype-dependent differential methylation, only with high SFA int…
gNOMO: a multi-omics pipeline for integrated host and microbiome analysis of non-model organisms
2020
The study of bacterial symbioses has grown exponentially in the recent past. However, existing bioinformatic workflows of microbiome data analysis do commonly not integrate multiple meta-omics levels and are mainly geared toward human microbiomes. Microbiota are better understood when analyzed in their biological context; that is together with their host or environment. Nevertheless, this is a limitation when studying non-model organisms mainly due to the lack of well-annotated sequence references. Here, we present gNOMO, a bioinformatic pipeline that is specifically designed to process and analyze non-model organism samples of up to three meta-omics levels: metagenomics, metatranscriptomic…
Blastic plasmacytoid dendritic cell neoplasm: genomics mark epigenetic dysregulation as a primary therapeutic target
2018
Blastic Plasmacytoid Dendritic Cell Neoplasm is a rare and aggressive hematological malignancy currently lacking an effective therapy. To possibly identify genetic alterations useful for a new treatment design, we analyzed by whole-exome sequencing fourteen Blastic Plasmacytoid Dendritic Cell Neoplasm patients and the patient-derived CAL-1 cell line. The functional enrichment analysis of mutational data reported the epigenetic regulatory program as the most significantly undermined (P<.0001). In particular, twenty-five epigenetic-modifiers were found mutated (e.g., ASXL1, TET2, SUZ12, ARID1A, PHF2, CHD8); ASXL1 was the most frequently affected (28.6% of cases). To evaluate the impact of …
Genome-wide characterization of chromatin binding and nucleosome spacing activity of the nucleosome remodelling ATPase ISWI.
2010
The evolutionarily conserved ATP-dependent nucleosome remodelling factor ISWI can space nucleosomes affecting a variety of nuclear processes. In Drosophila, loss of ISWI leads to global transcriptional defects and to dramatic alterations in higher-order chromatin structure, especially on the male X chromosome. In order to understand if chromatin condensation and gene expression defects, observed in ISWI mutants, are directly correlated with ISWI nucleosome spacing activity, we conducted a genome-wide survey of ISWI binding and nucleosome positioning in wild-type and ISWI mutant chromatin. Our analysis revealed that ISWI binds both genic and intergenic regions. Remarkably, we found that ISWI…
Machine learning of reverse transcription signatures of variegated polymerases allows mapping and discrimination of methylated purines in limited tra…
2020
AbstractReverse transcription (RT) of RNA templates containing RNA modifications leads to synthesis of cDNA containing information on the modification in the form of misincorporation, arrest, or nucleotide skipping events. A compilation of such events from multiple cDNAs represents an RT-signature that is typical for a given modification, but, as we show here, depends also on the reverse transcriptase enzyme. A comparison of 13 different enzymes revealed a range of RT-signatures, with individual enzymes exhibiting average arrest rates between 20 and 75%, as well as average misincorporation rates between 30 and 75% in the read-through cDNA. Using RT-signatures from individual enzymes to trai…
NOseq: amplicon sequencing evaluation method for RNA m6A sites after chemical deamination
2020
Abstract Methods for the detection of m6A by RNA-Seq technologies are increasingly sought after. We here present NOseq, a method to detect m6A residues in defined amplicons by virtue of their resistance to chemical deamination, effected by nitrous acid. Partial deamination in NOseq affects all exocyclic amino groups present in nucleobases and thus also changes sequence information. The method uses a mapping algorithm specifically adapted to the sequence degeneration caused by deamination events. Thus, m6A sites with partial modification levels of ∼50% were detected in defined amplicons, and this threshold can be lowered to ∼10% by combination with m6A immunoprecipitation. NOseq faithfully d…