Search results for "genomic"
showing 10 items of 1737 documents
Analysis of the proteins involved in the structure and synthesis of the cell wall of Ustilago maydis
2008
Abstract A study of the proteins involved in the synthesis and structure of the cell wall of Ustilago maydis was made by in silico analysis of the fungal genome, with reference to supporting experimental evidence. The composition of the cell wall of U. maydis shows similarities with the structural composition of the walls of Ascomycetes, but also shows important differential features. Accordingly, the enzymes involved in the synthesis of the U. maydis wall polysaccharides chitin and β-1,6 glucans displayed some differential characteristics. The most salient difference in protein composition was the predicted absence of Pir proteins, an important class of proteins present in the Ascomycetes.…
PUNAS: A Parallel Ungapped-Alignment-Featured Seed Verification Algorithm for Next-Generation Sequencing Read Alignment
2017
The progress of next-generation sequencing has a major impact on medical and genomic research. This technology can now produce billions of short DNA fragments (reads) in a single run. One of the most demanding computational problems used by almost every sequencing pipeline is short-read alignment; i.e. determining where each fragment originated from in the original genome. Most current solutions are based on a seed-and-extend approach, where promising candidate regions (seeds) are first identified and subsequently extended in order to verify whether a full high-scoring alignment actually exists in the vicinity of each seed. Seed verification is the main bottleneck in many state-of-the-art a…
Induction of DNA Repair Genes in Mammalian Cells in Response to Genotoxic Stress
2006
Genotoxic agents provoke the activation of receptor-triggered pathways and DNA damage-related functions. Here we review data on immediate-early cellular responses and transcriptional activation of DNA repair genes following exposure of mammalian cells to genotoxic stress. Functional consequences of induction of DNA repair genes are also briefly discussed.
Genome-wide detection of copy-number variations in local cattle breeds
2019
The aim of the present study was to identify copy-number variations (CNVs) in Cinisara (CIN) and Modicana (MOD) cattle breeds on the basis of signal intensity (logR ratio) and B allele frequency of each marker, using Illumina’s BovineSNP50K Genotyping BeadChip. The CNVs were detected with the PennCNV and SVS 8.7.0 software and were aggregated into CNV regions (CNVRs). PennCNV identified 487 CNVs in CIN that aggregated into 86 CNVRs, and 424 CNVs in MOD that aggregated into 81 CNVRs. SVS identified a total of 207 CNVs in CIN that aggregated into 39 CNVRs, and 181 CNVs in MOD that aggregated into 41 CNVRs. The CNVRs identified with the two softwares contained 29 common CNVRs in CIN and 17 co…
Advanced clinical diagnostic techniques: omics and their application to the molecular study of diseases
2023
El document forma part dels materials docents programats mitjançant l'ajut del Servei de Política Lingüística de la Universitat de València Omics development is allowing to improve clinical diagnostic techniques in clinical biochemistry. Omics investigate organisms as a whole and allow to study several parameters from a holistic perspective. Through the groundbreakingly development of cytomics, metabolomics and genomics and transcriptomics we can study cells, metabolites and genes as biomarkers for the diagnostic of several pathologies through the application of biochemical and molecular biology techniques. In this seminar, a state-of-the-art review is performed, in order to evaluate the in…
Taxonomical and Functional Assessment of the Endometrial Microbiota in A Context of Recurrent Reproductive Failure: A Case Report
2019
Investigation of the microbial community in the female reproductive tract has revealed that the replacement of a community dominated by Lactobacillus with pathogenic bacteria may be associated with implantation failure or early spontaneous abortion in patients undergoing assisted reproductive technology (ART) treatment. Herein we describe taxonomically and functionally the endometrial microbiome of an infertile patient with repeated reproductive failures (involving an ectopic pregnancy and two clinical miscarriages). The microbiological follow-up is presented over 18-month in which the microbiota was evaluated in six endometrial fluid samples. The microbial profile of 16S rRNA gene sequenci…
Detection of Immunoglobulin Heavy Chain Gene Clonality By High-Throughput Sequencing for Minimal Residual Disease Monitoring in Chronic Lymphocytic L…
2019
Introduction: The negative minimal residual disease (MRD) after treatment has been recently accepted as endpoint for Chronic Lymphocytic Leukaemia (CLL) clinical trials. Conventionally, MRD can be detected by using multi-color Flow Cytometry (FC) with high sensitivity. Determination of the clonal immunoglobulin gene rearrangement can be a useful monitoring marker in a broad range of B-cell lymphoproliferative neoplasms. Moreover, the mutational status of immunoglobulin heavy chain variable (IgHV) rearrangement is considered one of the most important prognostic factors in CLL. Therefore, the identification of the IgHV rearrangement can be a useful marker both at diagnostic and as monitoring …
Epidemic dissemination of Salmonella enterica spp. enterica serovar Bovismorbificans in southern Italy in the years 1989-1991.
1994
Epidemic strains of Salmonella enterica subsp. enterica serovar Bovismorbificans isolated in southern Italy during the years 1989-1991 were submitted to a molecular epidemiological study in comparison with isolates identified in the years 1980-1988 in the same geographic area. Genomic DNA fragments obtained by digestion with BglI or Eco RI hybridized with Escherichia coli rRNA to produce three distinct, but highly related patterns. Ribotype 1, which had never been identified before 1989, was found to characterize most of the strains identified between 1989 and 1991. Such a finding supports the hypothesis of emergence and spread of a new bacterial clone associated with the increased number o…
The Three Steps of Clustering in the Post-Genomic Era: A Synopsis
2011
Clustering is one of the most well known activities in scientific investigation and the object of research in many disciplines, ranging from Statistics to Computer Science. Following Handl et al., it can be summarized as a three step process: (a) choice of a distance function; (b) choice of a clustering algorithm; (c) choice of a validation method. Although such a purist approach to clustering is hardly seen in many areas of science, genomic data require that level of attention, if inferences made from cluster analysis have to be of some relevance to biomedical research. Unfortunately, the high dimensionality of the data and their noisy nature makes cluster analysis of genomic data particul…
The ATXN1 and TRIM31 genes are related to intelligence in an ADHD background: evidence from a large collaborative study totaling 4,963 subjects
2010
Contains fulltext : 96400.pdf (Publisher’s version ) (Closed access) Intelligence is a highly heritable trait for which it has proven difficult to identify the actual genes. In the past decade, five whole-genome linkage scans have suggested genomic regions important to human intelligence; however, so far none of the responsible genes or variants in those regions have been identified. Apart from these regions, a handful of candidate genes have been identified, although most of these are in need of replication. The recent growth in publicly available data sets that contain both whole genome association data and a wealth of phenotypic data, serves as an excellent resource for fine mapping and …