A survey and evaluation of Web-based tools/databases for variant analysis of TCGA data.
Ontology highlight
ABSTRACT:
SUBMITTER: Zhang Z
PROVIDER: S-EPMC6781580 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Publications
A survey and evaluation of Web-based tools/databases for variant analysis of TCGA data.
Zhang Zhuo Z Li Hao H Jiang Shuai S Li Ruijiang R Li Wanying W Chen Hebing H Bo Xiaochen X
Briefings in bioinformatics 20190701 4
The Cancer Genome Atlas (TCGA) is a publicly funded project that aims to catalog and discover major cancer-causing genomic alterations with the goal of creating a comprehensive 'atlas' of cancer genomic profiles. The availability of this genome-wide information provides an unprecedented opportunity to expand our knowledge of tumourigenesis. Computational analytics and mining are frequently used as effective tools for exploring this byzantine series of biological and biomedical data. However, som ...[more]
Similar Datasets
Project description:For many research aspects on small non-coding RNAs, especially microRNAs, computational tools and databases are developed. This includes quantification of miRNAs, piRNAs, tRNAs and tRNA fragments, circRNAs and others. Furthermore, the prediction of new miRNAs, isomiRs, arm switch events, target and target pathway prediction and miRNA pathway enrichment are common tasks. Additionally, databases and resources containing expression profiles, e.g., from different tissues, organs or cell types, are generated. This information in turn leads to improved miRNA repositories. While most of the respective tools are implemented in a species-independent manner, we focused on tools for human small non-coding RNAs. This includes four aspects: (1) miRNA analysis tools (2) databases on miRNAs and variations thereof (3) databases on expression profiles (4) miRNA helper tools facilitating frequent tasks such as naming conversion or reporter assay design. Although dependencies between the tools exist and several tools are jointly used in studies, the interoperability is limited. We present HumiR, a joint web presence for our tools. HumiR facilitates an entry in the world of miRNA research, supports the selection of the right tool for a research task and represents the very first step towards a fully integrated knowledge-base for human small non-coding RNA research. We demonstrate the utility of HumiR by performing a very comprehensive analysis of Alzheimer's miRNAs.
| S-EPMC7699549 | biostudies-literature
Project description:BACKGROUND:The Canadian CT Head Rule (CCHR), the Canadian Transient Ischemic Attack (TIA) Score, and the Subarachnoid Hemorrhage (SAH) Rule have all previously demonstrated the potential to significantly standardize care and improve the management of patients in emergency departments (EDs). On the basis of user feedback, we believe that the addition of these rules to the Ottawa Rules App has the potential to increase the app's usability and user acceptability. OBJECTIVE:This study aimed to evaluate the perceived usefulness, acceptability, and uptake of the enhanced Ottawa Rules App (which now includes CCHR, TIA, and SAH Rules) among ED clinicians (medical students, residents, nurses, and physicians). METHODS:The enhanced Ottawa Rules App was publicly released for free on iOS and Android operating systems in November 2018. This study was conducted across 2 tertiary EDs in Ottawa, Canada. Posters, direct enrollment, snowball sampling, and emails were used for study recruitment. A 24-question Web-based survey was administered to participants via email, and this was used to determine user acceptability of the app and Technology Readiness Index (TRI) scores. In-app user analytics were collected to track user behavior, such as the number of app sessions, length of app sessions, frequency of rule use, and the date app was first opened. RESULTS:A total of 77 ED clinicians completed the study, including 34 nurses, 12 residents, 14 physicians, and 17 medical students completing ED rotations. The median TRI score for this group was 3.38, indicating a higher than average propensity to embrace and adopt new technologies to accomplish goals in their work or daily lives. The majority of respondents agreed or strongly agreed that the app helped participants accurately carry out the clinical rules (56/77, 73%) and that they would recommend this app to their colleagues (64/77, 83%). Feedback from study participants suggested further expansion of the app-more clinical decision rules (CDRs) and different versions of the app tailored to the clinician role. Analysis and comparison of Google Analytics data and in-app data revealed similar usage behavior among study-enrolled users and all app users globally. CONCLUSIONS:This study provides evidence that using the Ottawa Rules App (version 3.0.2) to improve and guide patient care would be feasible and widely accepted. The ability to verify self-reported user data (via a Web-based survey) against server analytics data is a notable strength of this study. Participants' continued app use and request for the addition of more CDRs warrant the further development of this app and call for additional studies to evaluate its feasibility and usability in different settings as well as assessment of clinical impact.
| S-EPMC7016628 | biostudies-literature
Project description:Recent advances in genome sequencing technologies provide unprecedented opportunities to characterize individual genomic landscapes and identify mutations relevant for diagnosis and therapy. Specifically, whole-exome sequencing using next-generation sequencing (NGS) technologies is gaining popularity in the human genetics community due to the moderate costs, manageable data amounts and straightforward interpretation of analysis results. While whole-exome and, in the near future, whole-genome sequencing are becoming commodities, data analysis still poses significant challenges and led to the development of a plethora of tools supporting specific parts of the analysis workflow or providing a complete solution. Here, we surveyed 205 tools for whole-genome/whole-exome sequencing data analysis supporting five distinct analytical steps: quality assessment, alignment, variant identification, variant annotation and visualization. We report an overview of the functionality, features and specific requirements of the individual tools. We then selected 32 programs for variant identification, variant annotation and visualization, which were subjected to hands-on evaluation using four data sets: one set of exome data from two patients with a rare disease for testing identification of germline mutations, two cancer data sets for testing variant callers for somatic mutations, copy number variations and structural variations, and one semi-synthetic data set for testing identification of copy number variations. Our comprehensive survey and evaluation of NGS tools provides a valuable guideline for human geneticists working on Mendelian disorders, complex diseases and cancers.
| S-EPMC3956068 | biostudies-literature
Project description:A metabolome--the collection of comprehensive quantitative data on metabolites in an organism--has been increasingly utilized for applications such as data-intensive systems biology, disease diagnostics, biomarker discovery, and assessment of food quality. A considerable number of tools and databases have been developed to date for the analysis of data generated by various combinations of chromatography and mass spectrometry. We report here a web portal named KOMICS (The Kazusa Metabolomics Portal), where the tools and databases that we developed are available for free to academic users. KOMICS includes the tools and databases for preprocessing, mining, visualization, and publication of metabolomics data. Improvements in the annotation of unknown metabolites and dissemination of comprehensive metabolomic data are the primary aims behind the development of this portal. For this purpose, PowerGet and FragmentAlign include a manual curation function for the results of metabolite feature alignments. A metadata-specific wiki-based database, Metabolonote, functions as a hub of web resources related to the submitters' work. This feature is expected to increase citation of the submitters' work, thereby promoting data publication. As an example of the practical use of KOMICS, a workflow for a study on Jatropha curcas is presented. The tools and databases available at KOMICS should contribute to enhanced production, interpretation, and utilization of metabolomic Big Data.
| S-EPMC4052814 | biostudies-literature
Project description:The SEED integrates many publicly available genome sequences into a single resource. The database contains accurate and up-to-date annotations based on the subsystems concept that leverages clustering between genomes and other clues to accurately and efficiently annotate microbial genomes. The backend is used as the foundation for many genome annotation tools, such as the Rapid Annotation using Subsystems Technology (RAST) server for whole genome annotation, the metagenomics RAST server for random community genome annotations, and the annotation clearinghouse for exchanging annotations from different resources. In addition to a web user interface, the SEED also provides Web services based API for programmatic access to the data in the SEED, allowing the development of third-party tools and mash-ups.The currently exposed Web services encompass over forty different methods for accessing data related to microbial genome annotations. The Web services provide comprehensive access to the database back end, allowing any programmer access to the most consistent and accurate genome annotations available. The Web services are deployed using a platform independent service-oriented approach that allows the user to choose the most suitable programming platform for their application. Example code demonstrate that Web services can be used to access the SEED using common bioinformatics programming languages such as Perl, Python, and Java.We present a novel approach to access the SEED database. Using Web services, a robust API for access to genomics data is provided, without requiring large volume downloads all at once. The API ensures timely access to the most current datasets available, including the new genomes as soon as they come online.
| S-EPMC2900279 | biostudies-other
Project description:BACKGROUNDS:Lung adenocarcinoma (LUAD) is one of the most common malignancies, and is a serious threat to human health. The aim of the present study was to assess potential biomarkers for the prognosis of LUAD through the analysis of gene expression microarrays. METHODS:The gene expression data for GSE118370 was downloaded from the Gene Expression Omnibus (GEO) database. Differentially expressed genes (DEGs) between normal lung and LUAD samples were screened using the R language. The DAVID database was used to analyze the functions and pathways of DEGs. The STRING database was used to the map protein-protein interaction (PPI) networks, and these were visualized with the Cytoscape software. Finally, the prognostic analysis of the hub gene in the PPI network was performed using the Kaplan-Meier tool. RESULTS:A total of 406 downregulated and 203 upregulated DEGs were identified. The GO analysis results revealed that downregulated DEGs were significantly enriched in angiogenesis, calcium ion binding and cell adhesion. The upregulated DEGs were significantly enriched in the extracellular matrix disassembly, collagen catabolic process, chemokine-mediated signaling pathway and endopeptidase inhibitor activity. The KEGG pathway analysis revealed that downregulated DEGs were enriched in neuroactive ligand-receptor interaction, hematopoietic cell lineage and vascular smooth muscle contraction, while upregulated DEGs were enriched in phototransduction. In addition, the top 10 hub genes and the most closely interacting modules of the top 3 proteins in the PPI network were screened. Finally, the independent prognostic value of each hub gene in LUAD patients was analyzed through the Kaplan-Meier plotter. Seven hub genes (ADCY4, S1PR1, FPR2, PPBP, NMU, PF4, and GCG) were closely correlated to overall survival time. CONCLUSION:The discovery of these candidate genes and pathways reveals the etiology and molecular mechanisms of LUAD, providing ideas and guidance for the development of new therapeutic approaches to LUAD.
| S-EPMC7220259 | biostudies-literature
Project description:Wing area, wing loading, and aspect ratio are key variables for studies of avian comparative ecology, despite the complexity of measuring wing characteristics in living and museum specimens. The systematic databases of feather photographs available on the Internet may offer an alternative way of obtaining such morphometric data. Here, we evaluate whether measurements of scanned feathers from web photograph databases may offer reliable estimates of avian morphometry.Published data on wing area were obtained for 317 bird species and feather measurements from web photograph databases for 225 of them. A variable termed "lift generation area," a proxy for wing area, was calculated for each species on the basis of the mean length of the five distal secondary feathers and wingspan data from literature. The fit between this proposed variable and data extracted from the literature was examined by correlation, employing linear regression to explore the lack of fit among species."Lift generation area" proved to be highly informative as a proxy for wing area for the study species as a whole (R 2 > .98). Discrepancies observed between species were strongly negatively associated with the size of the original sample used to calculate wing area (p = .001) and, to a lesser extent, with bird size (p = .023), but not with aspect ratio. It was also found that the mean value of the mismatch between "lift generation area" and wing area (13.1%) among the study species as a whole was of similar magnitude to that found between sources of bibliographic wing area data for the 64 species for which two published estimates of this variable were available (15.3%).We conclude that measurements made from feather photograph databases are reliable for use in studies of avian comparative ecology, enabling the inclusion of biomechanical parameters of many more species than featured at present.
| S-EPMC8216968 | biostudies-literature
Project description:The vast majority of the human transcriptome does not code for proteins. Advances in transcriptome arrays and deep sequencing are giving rise to a fast accumulation of large data sets, particularly of long noncoding RNAs (lncRNAs). Although it is clear that individual lncRNAs may play important and diverse biological roles, there is a large gap between the number of existing lncRNAs and their known relation to molecular/cellular function. This and related information have recently been gathered in several databases dedicated to lncRNA research. Here, we review the content of general and more specialized databases on lncRNAs. We evaluate these resources in terms of the quality of annotations, the reporting of validated or predicted molecular associations, and their integration with other resources and computational analysis tools. We illustrate our findings using known and novel cancer-related lncRNAs. Finally, we discuss limitations and highlight potential future directions for these databases to help delineating functions associated with lncRNAs.
| S-EPMC4201818 | biostudies-literature
Project description:PurposeWeb-based questionnaires are currently the standard method for course evaluations. The high rate of smartphone adoption in Sweden makes possible a range of new uses, including course evaluation. This study examines the potential advantages and disadvantages of using a smartphone app as a complement to web-based course evaluationsystems.MethodsAn iPhone app for course evaluations was developed and interfaced to an existing web-based tool. Evaluations submitted using the app were compared with those submitted using the web between August 2012 and June 2013, at the Faculty of Medicine at Uppsala University, Sweden.ResultsAt the time of the study, 49% of the students were judged to own iPhones. Over the course of the study, 3,340 evaluations were submitted, of which 22.8% were submitted using the app. The median of mean scores in the submitted evaluations was 4.50 for the app (with an interquartile range of 3.70-5.20) and 4.60 (3.70-5.20) for the web (P=0.24). The proportion of evaluations that included a free-text comment was 50.5% for the app and 49.9% for the web (P=0.80).ConclusionAn app introduced as a complement to a web-based course evaluation system met with rapid adoption. We found no difference in the frequency of free-text comments or in the evaluation scores. Apps appear to be promising tools for course evaluations. web-based course evaluation system met with rapid adoption. We found no difference in the frequency of free-text comments or in the evaluation scores. Apps appear to be promising tools for course evaluations.
| S-EPMC4722169 | biostudies-literature
Project description:Epilepsy affects more than three million people in the United States. In approximately one-third of this population, anti-seizure medications do not control seizures. Many patients pursue surgical treatment that can include a procedure involving the implantation of electrodes for intracranial monitoring of seizure activity. For these cases, accurate mapping of the implanted electrodes on a patient’s brain is crucial in planning the ultimate surgical treatment. Traditionally, electrode mapping results are presented in static figures that do not allow for dynamic interactions and visualizations. In collaboration with a clinical research team at a Level 4 Epilepsy Center, we developed N-Tools-Browser, a web-based software using WebGL and the X-Toolkit (XTK), to help clinicians interactively visualize the location and functional properties of implanted intracranial electrodes in 3D. Our software allows the user to visualize the seizure focus location accurately and simultaneously display functional characteristics (e.g., results from electrical stimulation mapping). Different visualization modes enable the analysis of multiple electrode groups or individual anatomical locations. We deployed a prototype of N-Tools-Browser for our collaborators at the New York University Grossman School of Medicine Comprehensive Epilepsy Center. Then, we evaluated its usefulness with domain experts on clinical cases.
| S-EPMC9580919 | biostudies-literature