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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
GeneDB: a resource for prokaryotic and eukaryotic organisms
Christiane Hertz-Fowler1, Chris S Peacock, Valerie Wood
1The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK. chf@sanger.ac.uk
GeneDB is a comprehensive genome database offering public access to pathogen and eukaryotic organism data. It integrates diverse genomic datasets with expert curation for advanced research.
Area of Science:
- Genomics
- Bioinformatics
- Microbiology
Background:
- Publicly accessible genome data is crucial for research.
- Coordinating data from multiple sequencing centers presents challenges.
- Ensuring data quality through curation is essential for reliable analysis.
Purpose of the Study:
- To introduce GeneDB as a unified resource for genomic data.
- To highlight the integration of curated annotation with raw sequence data.
- To facilitate public access to pathogen and eukaryotic organism genomes.
Main Methods:
- Web-based portal for data access and retrieval.
- Integration of genome and expressed sequence tag (EST) data.
- Biologist-led curation incorporating scientific literature and community input.
Main Results:
- GeneDB provides access to 11 datasets, including six curated by biologists.
- Data can be searched, sorted, and downloaded via a single interface.
- Facilitates access to data from the Pathogen Sequencing Unit and collaborators.
Conclusions:
- GeneDB serves as a valuable, integrated resource for genomic research.
- The curated approach enhances the utility of the genomic data.
- Public availability of such resources accelerates scientific discovery.
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