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Published on: August 15, 2019
Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies
Petros Papadopoulos1, Emmanouil Viennas, Vassiliki Gkantouna
1Department of Pharmacy, School of Health Sciences, University of Patras, GR-26504, Patras, Greece, Department of Computer Engineering and Informatics, Faculty of Engineering, University of Patras, GR-26504, Patras, Greece, Faculty of Medicine and Pharmacy, Human Genomic Center, University Mohammed V Souissi, 11400, Rabat, Morocco and Department of Computer and Informatics Engineering, Technological Educational Institute of Western Greece, GR-26334, Patras, Greece.
FINDbase is a global genomic variation database. Recent updates enhance data visualization, querying, and submission, improving access to genetic variation and disease information worldwide.
Area of Science:
- Genomics
- Bioinformatics
- Population Genetics
Background:
- FINDbase documents frequencies of clinically relevant genomic variations, including causative mutations and pharmacogenomic markers, across global populations.
- Database records detail population, ethnic group, geographical region, disorder, gene, related databases, and variation frequencies.
Purpose of the Study:
- To report significant developments in FINDbase, enhancing its utility for researchers.
- To improve data visualization, querying capabilities, data submission processes, and interrelation with other resources.
- To introduce a new module for genetic disease summaries.
Main Methods:
- Development of new data visualization tools for enhanced querying and comparative analysis across populations.
- Implementation of a new FINDbase module using Microsoft's PivotViewer software for genetic disease summaries.
- Creation of a generic data submission tool for all existing FINDbase modules.
Main Results:
- Enhanced data visualization tools facilitate easier querying and comparison of genomic variation frequencies.
- A new module presents 259 genetic disease summaries from five populations, aiding understanding of population-specific genetic makeup.
- A universal data submission tool streamlines the process for contributing new data to the database.
Conclusions:
- FINDbase has been significantly enhanced with improved data visualization, querying, and submission functionalities.
- The new genetic disease summary module provides valuable insights into population-specific genetic variations.
- These updates aim to make FINDbase a more comprehensive and user-friendly resource for genomic variation data.
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