Dataset Information

EPGA: A Web-Based Information System for Translational Pharmacogenomics.

ABSTRACT: One of the challenges that arise from the advent of personal genomics services is to efficiently couple individual data with state of the art Pharmacogenomics (PGx) knowledge. Existing services are limited to either providing static views of PGx variants or applying a simplistic match between individual genotypes and existing PGx variants. Moreover, there is a considerable amount of haplotype variation associated with drug metabolism that is currently insufficiently addressed. Here, we present a web-based electronic Pharmacogenomics Assistant (ePGA; http://www.epga.gr/) that provides personalized genotype-to-phenotype translation, linked to state of the art clinical guidelines. ePGA's translation service matches individual genotype-profiles with PGx gene haplotypes and infers the corresponding diplotype and phenotype profiles, accompanied with summary statistics. Additional features include i) the ability to customize translation based on subsets of variants of clinical interest, and ii) to update the knowledge base with novel PGx findings. We demonstrate ePGA's functionality on genetic variation data from the 1000 Genomes Project.

SUBMITTER: Lakiotaki K

PROVIDER: S-EPMC5025168 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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ePGA: A Web-Based Information System for Translational Pharmacogenomics.

Lakiotaki Kleanthi K Kartsaki Evgenia E Kanterakis Alexandros A Katsila Theodora T Patrinos George P GP Potamias George G

PloS one 20160915 9

One of the challenges that arise from the advent of personal genomics services is to efficiently couple individual data with state of the art Pharmacogenomics (PGx) knowledge. Existing services are limited to either providing static views of PGx variants or applying a simplistic match between individual genotypes and existing PGx variants. Moreover, there is a considerable amount of haplotype variation associated with drug metabolism that is currently insufficiently addressed. Here, we present a ...[more]

PMID: 27631363

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Project description:BackgroundAn increasing number of research laboratories and core analytical facilities around the world are developing high throughput metabolomic analytical and data processing pipelines that are capable of handling hundreds to thousands of individual samples per year, often over multiple projects, collaborations and sample types. At present, there are no Laboratory Information Management Systems (LIMS) that are specifically tailored for metabolomics laboratories that are capable of tracking samples and associated metadata from the beginning to the end of an experiment, including data processing and archiving, and which are also suitable for use in large institutional core facilities or multi-laboratory consortia as well as single laboratory environments.ResultsHere we present MASTR-MS, a downloadable and installable LIMS solution that can be deployed either within a single laboratory or used to link workflows across a multisite network. It comprises a Node Management System that can be used to link and manage projects across one or multiple collaborating laboratories; a User Management System which defines different user groups and privileges of users; a Quote Management System where client quotes are managed; a Project Management System in which metadata is stored and all aspects of project management, including experimental setup, sample tracking and instrument analysis, are defined, and a Data Management System that allows the automatic capture and storage of raw and processed data from the analytical instruments to the LIMS.ConclusionMASTR-MS is a comprehensive LIMS solution specifically designed for metabolomics. It captures the entire lifecycle of a sample starting from project and experiment design to sample analysis, data capture and storage. It acts as an electronic notebook, facilitating project management within a single laboratory or a multi-node collaborative environment. This software is being developed in close consultation with members of the metabolomics research community. It is freely available under the GNU GPL v3 licence and can be accessed from, https://muccg.github.io/mastr-ms/.

Project description:BACKGROUND: There is great concern within health surveillance, on how to grapple with environmental degradation, rapid urbanization, population mobility and growth. The Internet has emerged as an efficient way to share health information, enabling users to access and understand data at their fingertips. Increasingly complex problems in the health field require increasingly sophisticated computer software, distributed computing power, and standardized data sharing. To address this need, Web-based mapping is now emerging as an important tool to enable health practitioners, policy makers, and the public to understand spatial health risks, population health trends and vulnerabilities. Today several web-based health applications generate dynamic maps; however, for people to fully interpret the maps they need data source description and the method used in the data analysis or statistical modeling. For the representation of health information through Web-mapping applications, there still lacks a standard format to accommodate all fixed (such as location) and variable (such as age, gender, health outcome, etc) indicators in the representation of health information. Furthermore, net-centric computing has not been adequately applied to support flexible health data processing and mapping online. RESULTS: The authors of this study designed a HEalth Representation XML (HERXML) schema that consists of the semantic (e.g., health activity description, the data sources description, the statistical methodology used for analysis), geometric, and cartographical representations of health data. A case study has been carried on the development of web application and services within the Canadian Geospatial Data Infrastructure (CGDI) framework for community health programs of the New Brunswick Lung Association. This study facilitated the online processing, mapping and sharing of health information, with the use of HERXML and Open Geospatial Consortium (OGC) services. It brought a new solution in better health data representation and initial exploration of the Web-based processing of health information. CONCLUSION: The designed HERXML has been proven to be an appropriate solution in supporting the Web representation of health information. It can be used by health practitioners, policy makers, and the public in disease etiology, health planning, health resource management, health promotion and health education. The utilization of Web-based processing services in this study provides a flexible way for users to select and use certain processing functions for health data processing and mapping via the Web. This research provides easy access to geospatial and health data in understanding the trends of diseases, and promotes the growth and enrichment of the CGDI in the public health sector.

Project description:As the number of protein folds is quite limited, a mode of analysis that will be increasingly common in the future, especially with the advent of structural genomics, is to survey and re-survey the finite parts list of folds from an expanding number of perspectives. We have developed a new resource, called PartsList, that lets one dynamically perform these comparative fold surveys. It is available on the web at http://bioinfo.mbb.yale.edu/partslist and http://www.partslist.org. The system is based on the existing fold classifications and functions as a form of companion annotation for them, providing 'global views' of many already completed fold surveys. The central idea in the system is that of comparison through ranking; PartsList will rank the approximately 420 folds based on more than 180 attributes. These include: (i) occurrence in a number of completely sequenced genomes (e.g. it will show the most common folds in the worm versus yeast); (ii) occurrence in the structure databank (e.g. most common folds in the PDB); (iii) both absolute and relative gene expression information (e.g. most changing folds in expression over the cell cycle); (iv) protein-protein interactions, based on experimental data in yeast and comprehensive PDB surveys (e.g. most interacting fold); (v) sensitivity to inserted transposons; (vi) the number of functions associated with the fold (e.g. most multi-functional folds); (vii) amino acid composition (e.g. most Cys-rich folds); (viii) protein motions (e.g. most mobile folds); and (ix) the level of similarity based on a comprehensive set of structural alignments (e.g. most structurally variable folds). The integration of whole-genome expression and protein-protein interaction data with structural information is a particularly novel feature of our system. We provide three ways of visualizing the rankings: a profiler emphasizing the progression of high and low ranks across many pre-selected attributes, a dynamic comparer for custom comparisons and a numerical rankings correlator. These allow one to directly compare very different attributes of a fold (e.g. expression level, genome occurrence and maximum motion) in the uniform numerical format of ranks. This uniform framework, in turn, highlights the way that the frequency of many of the attributes falls off with approximate power-law behavior (i.e. according to V(-b), for attribute value V and constant exponent b), with a few folds having large values and most having small values.

Dataset Information

EPGA: A Web-Based Information System for Translational Pharmacogenomics.

Publications

ePGA: A Web-Based Information System for Translational Pharmacogenomics.

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