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At least 361 records · Page 20Linked to original sources

Analysis of differentially expressed genes in schizophrenia based on bioinformatics and corresponding mRNA expression levels.

OBJECTIVE: This study aimed to use bioinformatics analysis to identify differentially expressed genes (DEGs) involved in the pathogenesis of schizophrenia and validate their mRNA expression levels through real-time quantitative PCR (qPCR). MATERIAL/METHODS: Datasets from the publicly available Gene Expression Omnibus (GEO) database were analyzed using R software to identify DEGs. Functional enrichment analyses, including Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways, were conducted. A protein-protein interaction (PPI) network was constructed using Cytoscape software to identify key genes with notable expression changes. The expression levels of these key genes were subsequently validated in schizophrenia patients using qPCR to assess potential susceptibility genes. RESULTS: In total, 813 DEGs were identified, with six key genes highlighted through GO analysis and PPI network screening. Among these, HDAC1, UBA52, and FYN demonstrated statistically significant differences in mRNA expression between schizophrenia patients and healthy controls (P&#xa0;<&#xa0;0.05). CONCLUSIONS: This study identified several DEGs potentially linked to the pathogenesis of schizophrenia, suggesting that HDAC1, UBA52, and FYN could serve as candidate susceptibility genes and diagnostic biomarkers. These findings provide new insights and directions for future schizophrenia research.

Humans↗

Novel techniques for visualising biological information.

The major challenge facing the bioinformatics community is the continuing increase in the number, size and complexity of biological databases with which it must contend. The goal of the research discussed herein is the development and utilisation of techniques that allow researchers to extract new and useful information from these burgeoning information resources using advanced visualisation methods and paradigms, coupled with distributed object technologies that allow communications between applications and remote databases. Visualisation has roles not only in analysis, but also in building more user-friendly interfaces, implementing methods to navigate large information spaces intuitively and powerful techniques to browse and query data. By using platform-independent object-oriented programming languages, these resources may be developed as reusable pieces of software componentry with their methods and interfaces defined fully, and then distributed through organisations such as the bioWidget Consortium. The widget and object-oriented approach is a powerful paradigm in developing new applications from existing components. Development time is reduced and greater time is spent on analysing these data, rather than in the writing of monolithic applications. More powerful applications can be constructed from components interacting in concert and offers the opportunity of a new generation of bioinformatics tools.

Base Composition↗

eL-DASionator: an LDAS upload file generator.

BACKGROUND: The Distributed Annotation System (DAS) allows merging of DNA sequence annotations from multiple sources and provides a single annotation view. A straightforward way to establish a DAS annotation server is to use the "Lightweight DAS" server (LDAS). Onto this type of server, annotations can be uploaded as flat text files in a defined format. The popular Ensembl ContigView uses the same format for the transient upload and display of user data. RESULTS: In order to easily generate LDAS upload files we developed a software tool that is accessible via a web-interface http://atgc.lirmm.fr/eldasionator.html. Users can submit their DNA sequences of interest. Our program (i) aligns these sequences to the reference sequences of Ensembl, (ii) determines start and end positions of each sequence on the reference sequence, and (iii) generates a formatted annotation file. This file can be used to load any LDAS annotation server or it can be uploaded to the Ensembl ContigView. CONCLUSION: The eL-DASionator is an on-line tool that is intended for life-science researchers with little bioinformatics background. It conveniently generates LDAS upload files, and makes it possible to generate annotations in a standard format that permits comfortable sharing of this data.

Base Sequence↗

Confocal microscopy and cellular bioinformatics.

An exhaustive description of most biological data requires, besides a set of analytic information, an eidetic representation of the data itself. In this paper, two topics are presented. The first one is confocal microscopy, an advanced technique to produce multidimensional cellular and subcellular structures images. The second one is a software application, named BIOCELL, based on a relational database management system, developed to provide the biologist with an integrated tool to handle simultaneously cell biology linguistic and eidetic information.

Biotechnology↗

Oligonucleotide properties determination and primer designing: a critical examination of predictions.

MOTIVATION: Precise prediction of melting temperature (T(m)), secondary structures and design of oligonucleotides determine the efficiency and success of experimentation in molecular biology. Availability of a plethora of software and the users unawareness about their limitations compromises the accuracy and reliability of the predictions. RESULTS: Comparative analysis of 56 modules was done for T(m) prediction using a large set of oligonucleotide sequences spanning the whole range of GC-content and length. Allawi module of the calculator 'MELTING', Nearest Neighbor (NN) of oligo calculator (McLab), NN of T(m) Calculation for Oligos (Biomath Calculator, Promega) and HYTHER provided the most precise T(m) predictions. A model has also been proposed to calculate the optimum annealing temperature integrating the already reported formulations. Secondary structure predictions of oligonucleotides reveal a large number of structures in contrast to the experimental observations. Of the 11 primer designing tools evaluated, Primer 3 and WebPrimer performed the best for the AT-rich templates, Exon Primer for AT = GC templates, and Primer Design Assistant, Primer3 and Primer Quest for GC-rich templates. This study provides optimal choice for application to the user, increasing the success of a variety of experimentations, especially those that have high-throughput and complex assay designs. CONTACT: db@igib.res.in SUPPLEMENTARY INFORMATION: The details of the oligonucleotides and of the different modules of T(m) prediction considered for the study are provided as Supplementary Information, available at Bioinformatics online.

Computer Simulation↗

Programs, databases, and expert systems for human geneticists--a survey.

We present an overview of the variety of databases and programs that offer substantial aid to medical and molecular geneticists. Databases and expert systems for genetic diseases and birth defects, programs for segregation and linkage analysis, certain DNA and protein sequence databases, and information resources in general for molecular biology are addressed. These systems cannot be used effectively without the newly developed techniques of information exchange based on international computer networks. A short introduction is given to the Internet and to European institutions and organizations that offer help with the acquisition and use of bioinformatic resources.

Computer Communication Networks↗

SeWeR: a customizable and integrated dynamic HTML interface to bioinformatics services.

SUMMARY: Sequence analysis using Web Resources (SeWeR) is an integrated, Dynamic HTML (DHTML) interface to commonly used bioinformatics services available on the World Wide Web. It is highly customizable, extendable, platform neutral, completely server-independent and can be hosted as a web page as well as being used as stand-alone software running within a web browser.

Computational Biology↗

VIS-O-BAC: exploratory visualization of functional genome studies from bacteria.

UNLABELLED: The visualization-aided exploration of complex datasets will allow the research community to formulate novel functional hypotheses leading to a better understanding of biological processes at all levels. Therefore, we have developed a web resource termed VIS-O-BAC designed for the functional investigation of expression data for model systems, such as bacterial pathogens based on a graphical display. Genome-scale datasets derived from typical 'omic' approaches can directly be explored with respect to three biologically relevant aspects, the genome structure (operon organization), the organization of genes in pathways (KEGG) and the gene function with Gene Ontology (GO) terms. The integrated viewers can be used in parallel and combine expression data and functional annotations from different external data repositories. The graphical visualizations evidently accelerate both the validation of regulatory information and the detection of affected biological processes. AVAILABILITY: http://leger2.gbf.de/cgi-bin/vis-o-bac.pl. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Chromosome Mapping↗

RNA-related tools on the Bielefeld Bioinformatics Server.

We present four tools for the analysis of RNA secondary structure. They provide animated visualization of multiple structures, prediction of potential conformational switching, structure comparison (including local structure alignment) and prediction of structures potentially containing a certain kind of pseudoknots. All are available via the Bielefeld University Bioinformatics Server (http://bibiserv.techfak.uni-bielefeld.de).

Base Sequence↗

RNA structure comparison, motif search and discovery using a reduced representation of RNA conformational space.

Given the wealth of new RNA structures and the growing list of RNA functions in biology, it is of great interest to understand the repertoire of RNA folding motifs. The ability to identify new and known motifs within novel RNA structures, to compare tertiary structures with one another and to quantify the characteristics of a given RNA motif are major goals in the field of RNA research; however, there are few systematic ways to address these issues. Using a novel approach for visualizing and mathematically describing macromolecular structures, we have developed a means to quantitatively describe RNA molecules in order to rapidly analyze, compare and explore their features. This approach builds on the alternative eta,theta convention for describing RNA torsion angles and is executed using a new program called PRIMOS. Applying this methodology, we have successfully identified major regions of conformational change in the 50S and 30S ribosomal subunits, we have developed a means to search the database of RNA structures for the prevalence of known motifs and we have classified and identified new motifs. These applications illustrate the powerful capabilities of our new RNA structural convention, and they suggest future adaptations with important implications for bioinformatics and structural genomics.

Algorithms↗

Genome Annotation Transfer Utility (GATU): rapid annotation of viral genomes using a closely related reference genome.

BACKGROUND: Since DNA sequencing has become easier and cheaper, an increasing number of closely related viral genomes have been sequenced. However, many of these have been deposited in GenBank without annotations, severely limiting their value to researchers. While maintaining comprehensive genomic databases for a set of virus families at the Viral Bioinformatics Resource Center http://www.biovirus.org and Viral Bioinformatics - Canada http://www.virology.ca, we found that researchers were unnecessarily spending time annotating viral genomes that were close relatives of already annotated viruses. We have therefore designed and implemented a novel tool, Genome Annotation Transfer Utility (GATU), to transfer annotations from a previously annotated reference genome to a new target genome, thereby greatly reducing this laborious task. RESULTS: GATU transfers annotations from a reference genome to a closely related target genome, while still giving the user final control over which annotations should be included. GATU also detects open reading frames present in the target but not the reference genome and provides the user with a variety of bioinformatics tools to quickly determine if these ORFs should also be included in the annotation. After this process is complete, GATU saves the newly annotated genome as a GenBank, EMBL or XML-format file. The software is coded in Java and runs on a variety of computer platforms. Its user-friendly Graphical User Interface is specifically designed for users trained in the biological sciences. CONCLUSION: GATU greatly simplifies the initial stages of genome annotation by using a closely related genome as a reference. It is not intended to be a gene prediction tool or a "complete" annotation system, but we have found that it significantly reduces the time required for annotation of genes and mature peptides as well as helping to standardize gene names between related organisms by transferring reference genome annotations to the target genome. The program is freely available under the General Public License and can be accessed along with documentation and tutorial from http://www.virology.ca/gatu.

Amino Acid Sequence↗

Pithos - a scalable and&#xa0;secure data container for&#xa0;FAIR-compliant research data management in&#xa0;life sciences.

Modern research techniques have led to exponential growth in the volume and complexity of scientific data. Consequently, managing these volumes securely and efficiently has become a major challenge. While all research domains face these challenges, life science research is particularly affected because current approaches often rely on a large set of different file formats, with metadata stored in separated databases or spreadsheets. This leads to fragmented datasets, orphaned data, and compromised research reproducibility. Traditional solutions also force researchers to choose between security and accessibility, with encrypted files preventing selective access and indexed formats lacking adequate security for sensitive data. These limitations are particularly problematic in large-scale genomic studies where researchers must decompress multi-gigabyte files to access specific regions, creating computational bottlenecks and inefficient network usage when working with cloud-stored datasets. We introduce Pithos, a next-generation file format specifically designed for scientific data management in distributed cloud environments. The format uses content-defined chunking to enable efficient deduplication across distributed storage systems, thereby reducing storage costs and bandwidth requirements. The append-only structure ensures data immutability and allows for incremental updates without compromising content. Benchmark results show that Pithos outperforms existing solutions in read and write performance, with comparable or improved storage efficiency.

Biological Science Disciplines↗

SNP analysis and presentation in the Pharmacogenetics of Membrane Transporters Project.

The multidisciplinary UCSF Pharmacogenetics of Membrane Transporters project seeks to systematically identify sequence variants in transporters and to determine the functional significance of these variants through evaluation of relevant cellular and clinical phenotypes. The project is structured around four interacting cores: genomics, cellular phenotyping, clinical phenotyping, and bioinformatics. The bioinformatics core is responsible for collecting, storing, and analyzing the information obtained by the other cores and for presenting the results, in particular, for the genomic data. Most of this process is automated using locally developed software written in Python, an open source language well suited for rapid, modular development that meets requirements that are themselves constantly evolving. Here we present the details of transforming ABI trace file data into useful information for project investigators and a description of the types of data analysis and display that we have developed.

Amino Acid Sequence↗

SEARCHGTr: a program for analysis of glycosyltransferases involved in glycosylation of secondary metabolites.

SEARCHGTr is a web-based software for the analysis of glycosyltransferases (GTrs) involved in the biosynthesis of a variety of pharmaceutically important compounds like adriamycin, erythromycin, vancomycin etc. This software has been developed based on a comprehensive analysis of sequence/structural features of 102 GTrs of known specificity from 52 natural product biosynthetic gene clusters. SEARCHGTr is a powerful tool that correlates sequences of GTrs to the chemical structures of their corresponding substrates. This software indicates the donor/acceptor specificity and also identifies putative substrate binding residues. In addition, it provides interfaces to other public databases like GENBANK, SWISS-PROT, CAZY, PDB, PDBSum and PUBMED for extracting various information on GTrs homologous to the query sequence. SEARCHGTr would provide new dimension to our previously developed bioinformatics tool NRPS-PKS. Together, these tools facilitate comprehensive computational analysis of proteins involved in biosynthesis of aglycone core and its downstream glycosylations. Apart from presenting opportunities for rational design of novel natural products, these tools would assist in the identification of biosynthetic products of secondary metabolite gene clusters found in newly sequenced genomes. SEARCHGTr can be accessed at http://www.nii.res.in/searchgtr.html.

Anti-Bacterial Agents↗

A distributed environment for physical map construction.

MOTIVATION: With the main focus of the Human Genome Project shifting to sequencing, bioinformatics support for constructing large-scale genomic maps of other organisms is still required. We attempt to provide for this with our work, aimed at the delivery of robust and user-friendly contig-building software on the WWW. RESULTS: We present a prototype distributed analytical environment for molecular biologists working in the area of genomic mapping. It consists of the WWW server for constructing contigs from users' data with a hypertext output connected to Java-based map visualization software. AVAILABILITY: Freely available on http://www.mpimg-berlin-dahlem.mpg. de/ approximately andy/server/ CONTACT: andy@rag3.rz-berlin.mpg.de

Algorithms↗

Bioinformatics in medical practice: what is necessary for a hospital?

Building bioinformatic facilities for a university hospital is pretty similar to using standardized building blocks to construct a house. Starting with the intention to built a dwelling house, a factory or just a shelter the architect draws a construction plan and determines the material to be used. In general, the building is then constructed by the workmen following exactly the plan. However, for particular reasons, minor alterations may be needed to improve the construction of the building. Here we use the metaphor of constructing a "bio-informatics building" to describe the steps needed to support the daily tasks of a university hospital medical microbiology department which uses genomic methods quite extensively for pathogen identification. Today the Giessen "bioinformatics building" is not yet complete but we have been able to lay solid foundations and erect the ground floor which is functional already. Using a combination of standard tools, internet accessible genomic databases and some own software tools we can support genome sequencing from the raw sequence to pathogen identification.

Computational Biology↗

Graphically-enabled integration of bioinformatics tools allowing parallel execution.

Rapid analysis of large amounts of genomic data is of great biological as well as medical interest. This type of analysis will greatly benefit from the ability to rapidly assemble a set of related analysis programs and to exploit the power of parallel computing. TurboGenomics, which is a software package currently in its alpha-testing phase, allows integration of heterogeneous software components to be done graphically. In addition, the tool is capable of making the integrated components run in parallel. To demonstrate these abilities, we use the tool to develop a Web-based application that allows integrated access to a set of large-scale sequence data analysis programs used by a transposon-insertion based yeast genome project. We also contrast the differences in building such an application with and without using the TurboGenomics software.

Computational Biology↗