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Updated: Dec 24, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Data Sharing Advances Rare and Neglected Disease Clinical Research and Treatments
1RJB Computational Modeling LLC, Chapel Hill, North Carolina 27514, United States.
Abstract:
Because of the decreased cost and increased ease of whole genome analysis, the diagnosis of rare, orphan diseases has entered a new era. This new technological advance, combined with the worldwide web connections, now permits sharing, searching, and linking genotype, phenotype, and other information to facilitate diagnosis. Databases currently accessible and searchable by researchers, clinicians, and patients will be presented and discussed.
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