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DNAdigest and Repositive: Connecting the World of Genomic Data
Nadezda V Kovalevskaya1,2, Charlotte Whicher2, Timothy D Richardson2
1DNAdigest, Future Business Centre, Cambridge, United Kingdom.
Genomics researchers lack a central hub for raw genomic data. Repositive is developing a free online platform to index and search diverse human genomic data sources, aiding precision medicine.
Area of Science:
- Genomics
- Bioinformatics
- Data Science
Background:
- Genomic data is rapidly increasing, posing challenges for researchers.
- Lack of a unified search portal hinders access to raw genomic data, unlike curated databases for genes (OMIM) or proteins (UniProt).
- This fragmentation impedes progress in genomic research and the advancement of precision medicine.
Purpose of the Study:
- To address the fragmentation of raw human genomic data.
- To create a centralized, accessible platform for researchers.
- To facilitate efficient data sharing for improved genomic research and diagnostics.
Main Methods:
- DNAdigest, a charity, initiated the project to promote genomic data sharing.
- Repositive, a social enterprise, is developing an online platform.
- The platform will index genomic data from various repositories.
Main Results:
- A single, user-friendly interface is being built.
- Researchers will be able to search and access multiple human genomic data sources.
- The platform will be available free of charge.
Conclusions:
- The Repositive platform aims to unify access to raw human genomic data.
- This initiative is expected to accelerate genomic research and enhance precision medicine outcomes.
- Improved data accessibility will benefit patients through better diagnostics and treatments.
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