Phenotype Information Retrieval for Existing GWAS Studies.
Ontology highlight
ABSTRACT:
SUBMITTER: Alipanah N
PROVIDER: S-EPMC3845737 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:SummaryThe SwissVar portal provides access to a comprehensive collection of single amino acid polymorphisms and diseases in the UniProtKB/Swiss-Prot database via a unique search engine. In particular, it gives direct access to the newly improved Swiss-Prot variant pages. The key strength of this portal is that it provides a possibility to query for similar diseases, as well as the underlying protein products and the molecular details of each variant. In the context of the recently proposed molecular view on diseases, the SwissVar portal should be in a unique position to provide valuable information for researchers and to advance research in this area.AvailabilityThe SwissVar portal is available at www.expasy.org/swissvarContactanais.mottaz@isb-sib.ch; lina.yip@isb-sib.chSupplementary informationSupplementary data are available at Bioinformatics online.
| S-EPMC2832822 | biostudies-literature
Project description:Rapidly accumulating data from genome-wide association studies (GWASs) and other large-scale studies are most useful when synthesized with existing databases. To address this opportunity, we developed the Phenotype-Genotype Integrator (PheGenI), a user-friendly web interface that integrates various National Center for Biotechnology Information (NCBI) genomic databases with association data from the National Human Genome Research Institute GWAS Catalog and supports downloads of search results. Here, we describe the rationale for and development of this resource. Integrating over 66,000 association records with extensive single nucleotide polymorphism (SNP), gene, and expression quantitative trait loci data already available from the NCBI, PheGenI enables deeper investigation and interrogation of SNPs associated with a wide range of traits, facilitating the examination of the relationships between genetic variation and human diseases.
| S-EPMC3865418 | biostudies-literature
Project description:Scientists have unprecedented access to a wide variety of high-quality datasets. These datasets, which are often independently curated, commonly use unstructured spreadsheets to store their data. Standardized annotations are essential to perform synthesis studies across investigators, but are often not used in practice. Therefore, accurately combining records in spreadsheets from differing studies requires tedious and error-prone human curation. These efforts result in a significant time and cost barrier to synthesis research. We propose an information retrieval inspired algorithm, Synthesize, that merges unstructured data automatically based on both column labels and values. Application of the Synthesize algorithm to cancer and ecological datasets had high accuracy (on the order of 85-100%). We further implement Synthesize in an open source web application, Synthesizer (https://github.com/lisagandy/synthesizer). The software accepts input as spreadsheets in comma separated value (CSV) format, visualizes the merged data, and outputs the results as a new spreadsheet. Synthesizer includes an easy to use graphical user interface, which enables the user to finish combining data and obtain perfect accuracy. Future work will allow detection of units to automatically merge continuous data and application of the algorithm to other data formats, including databases.
| S-EPMC5402950 | biostudies-literature
Project description:We have developed a set of web-based SNP selection tools (freely available at http://www.niehs.nih.gov/snpinfo) where investigators can specify genes or linkage regions and select SNPs based on GWAS results, linkage disequilibrium (LD), and predicted functional characteristics of both coding and non-coding SNPs. The algorithm uses GWAS SNP P-value data and finds all SNPs in high LD with GWAS SNPs, so that selection is from a much larger set of SNPs than the GWAS itself. The program can also identify and choose tag SNPs for SNPs not in high LD with any GWAS SNP. We incorporate functional predictions of protein structure, gene regulation, splicing and miRNA binding, and consider whether the alternative alleles of a SNP are likely to have differential effects on function. Users can assign weights for different functional categories of SNPs to further tailor SNP selection. The program accounts for LD structure of different populations so that a GWAS study from one ethnic group can be used to choose SNPs for one or more other ethnic groups. Finally, we provide an example using prostate cancer and demonstrate that this algorithm can select a small panel of SNPs that include many of the recently validated prostate cancer SNPs.
| S-EPMC2703930 | biostudies-literature
Project description: Not available
| S-EPMC10659118 | biostudies-literature
Project description:BackgroundHealthcare information professionals play a key role in closing the knowledge gap between medical research and clinical practice. Their work involves meticulous searching of literature databases using complex search strategies that can consist of hundreds of keywords, operators, and ontology terms. This process is prone to error and can lead to inefficiency and bias if performed incorrectly.ObjectiveThe aim of this study was to investigate the search behavior of healthcare information professionals, uncovering their needs, goals, and requirements for information retrieval systems.MethodsA survey was distributed to healthcare information professionals via professional association email discussion lists. It investigated the search tasks they undertake, their techniques for search strategy formulation, their approaches to evaluating search results, and their preferred functionality for searching library-style databases. The popular literature search system PubMed was then evaluated to determine the extent to which their needs were met.ResultsThe 107 respondents indicated that their information retrieval process relied on the use of complex, repeatable, and transparent search strategies. On average it took 60 minutes to formulate a search strategy, with a search task taking 4 hours and consisting of 15 strategy lines. Respondents reviewed a median of 175 results per search task, far more than they would ideally like (100). The most desired features of a search system were merging search queries and combining search results.ConclusionsHealthcare information professionals routinely address some of the most challenging information retrieval problems of any profession. However, their needs are not fully supported by current literature search systems and there is demand for improved functionality, in particular regarding the development and management of search strategies.
| S-EPMC5643841 | biostudies-literature
Project description:ObjectiveInfobuttons are message-based content search and retrieval functions embedded within other applications that dynamically return information relevant to the clinical task at hand. The objective of this study was to determine whether infobuttons effectively answer providers' questions about medications or affect patient care decisions.DesignThe authors implemented and evaluated a medication infobutton application called KnowledgeLink. Health care providers at 18 outpatient clinics were randomized to one of two versions of KnowledgeLink, one that linked to information from Micromedex (Thomson Micromedex, Greenwood Village, Co) and the other to material from SkolarMD (Wolters Kluwer Health, Palo Alto, CA).MeasurementsData were collected about the frequency of use and demographics of users, patients, and drugs that were queried. Users were periodically surveyed with short questionnaires and then with a more extensive survey at the end of one year.ResultsDuring the first year, KnowledgeLink was used 7,972 times by 359 users to look up information about 1,723 medications for 4,961 patients. Clinicians used KnowledgeLink twice a month on average, and during an average of 1.2% of patient encounters. KnowledgeLink was used by a wide variety of medical staff, not just physicians and nurse practitioners. The frequency of usage and the questions asked varied with user role (primary care physician, specialist physician, nurse practitioner). Although the median KnowledgeLink session was brief (21 seconds), KnowledgeLink answered users' queries 84% of the time, and altered patient care decisions 15% of the time. Users rated KnowledgeLink favorably on multiple scales, recommended extending KnowledgeLink to other content domains, and suggested enhancing the interface to allow refinement of the query and selection of the target resource.ConclusionAn infobutton can satisfy information needs about medications. Although used infrequently and for brief sessions, KnowledgeLink was positively received, answered most users' questions, and had a significant impact on medical decision making. The next steps would be to broaden the domains that KnowledgeLink covers to more specifically tailor results to the user type, to provide options when queries are not immediately answered, and to implement KnowledgeLink within other electronic clinical applications.
| S-EPMC1380199 | biostudies-literature
Project description:In spite of the tremendous success of genome-wide association studies (GWAS) in identifying genetic variants associated with complex traits and common diseases, many more are yet to be discovered. Hence, it is always desirable to improve the statistical power of GWAS. Paralleling with the intensive efforts of integrating GWAS with functional annotations or other omic data, we propose leveraging other published GWAS summary data to boost statistical power for a new/focus GWAS; the traits of the published GWAS may or may not be genetically correlated with the target trait of the new GWAS. Building on weighted hypothesis testing with a solid theoretical foundation, we develop a novel and effective method to construct single-nucleotide polymorphism (SNP)-specific weights based on 22 published GWAS data sets with various traits, detecting sometimes dramatically increased numbers of significant SNPs and independent loci as compared to the standard/unweighted analysis. For example, by integrating a schizophrenia GWAS summary data set with 19 other GWAS summary data sets of nonschizophrenia traits, our new method identified 1,585 genome-wide significant SNPs mapping to 15 linkage disequilibrium-independent loci, largely exceeding 818 significant SNPs in 13 independent loci identified by the standard/unweighted analysis; furthermore, using a later and larger schizophrenia GWAS summary data set as the validation data, 1,423 (out of 1,585) significant SNPs identified by the weighted analysis, compared to 705 (out of 818) by the unweighted analysis, were confirmed, while all 15 and 13 independent loci were also confirmed. Similar conclusions were reached with lipids and Alzheimer's disease (AD) traits. We conclude that the proposed approach is simple and cost-effective to improve GWAS power.
| S-EPMC7722071 | biostudies-literature
Project description:ObjectiveHealth information retrieval (HIR) on the Internet has become an important practice for millions of people, many of whom have problems forming effective queries. We have developed and evaluated a tool to assist people in health-related query formation.DesignWe developed the Health Information Query Assistant (HIQuA) system. The system suggests alternative/additional query terms related to the user's initial query that can be used as building blocks to construct a better, more specific query. The recommended terms are selected according to their semantic distance from the original query, which is calculated on the basis of concept co-occurrences in medical literature and log data as well as semantic relations in medical vocabularies.MeasurementsAn evaluation of the HIQuA system was conducted and a total of 213 subjects participated in the study. The subjects were randomized into 2 groups. One group was given query recommendations and the other was not. Each subject performed HIR for both a predefined and a self-defined task.ResultsThe study showed that providing HIQuA recommendations resulted in statistically significantly higher rates of successful queries (odds ratio = 1.66, 95% confidence interval = 1.16-2.38), although no statistically significant impact on user satisfaction or the users' ability to accomplish the predefined retrieval task was found.ConclusionProviding semantic-distance-based query recommendations can help consumers with query formation during HIR.
| S-EPMC1380203 | biostudies-literature
Project description:The GWAS Central resource gathers and curates extensive summary-level genome-wide association study (GWAS) data and puts a range of user-friendly but powerful website tools for the comparison and visualisation of GWAS data at the fingertips of researchers. Through our continued efforts to harmonise and import data received from GWAS authors and consortia, and data sets actively collected from public sources, the database now contains over 72.5 million P-values for over 5000 studies testing over 7.4 million unique genetic markers investigating over 1700 unique phenotypes. Here, we describe an update to integrate this extensive data collection with mouse disease model data to support insights into the functional impact of human genetic variation. GWAS Central has expanded to include mouse gene-phenotype associations observed during mouse gene knockout screens. To allow similar cross-species phenotypes to be compared, terms from mammalian and human phenotype ontologies have been mapped. New interactive interfaces to find, correlate and view human and mouse genotype-phenotype associations are included in the website toolkit. Additionally, the integrated browser for interrogating multiple association data sets has been updated and a GA4GH Beacon API endpoint has been added for discovering variants tested in GWAS. The GWAS Central resource is accessible at https://www.gwascentral.org/.
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