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Data Sharing Advances Rare and Neglected Disease Clinical Research and Treatments

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...

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Bibliographic Details
Published in:ACS pharmacology & translational science 2019-12, Vol.2 (6), p.491-496
Main Author: Bienstock, Rachelle J
Format: Article
Language:English
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Summary: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.
ISSN:2575-9108
2575-9108
DOI:10.1021/acsptsci.9b00034