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SYNOPSIS: PhenoDB is a web-based tool developed for the collection, storage and analysis of phenotype data, as well as interpretation of exome and genome data in the context of phenotype data. It has it own taxonomy and links to OMIM for disease terms. There is a single center version that allow identifiers and includes only the phenotype and analysis module (http://phenodb.org) and a tool for larger studies that also includes a sample module and an ELSI module for storage and review of consents (http://researchphenodb.net). Both are freely available for download; http://phenodb.org can be used by individual users to try it out (it is toggled to have only deidentified data). PhenoDB has been in use for the Baylor-Hopkins Center for Mendelian Genomics since March 2012 and holds information on over 5000 individuals from ~3000 families. It has proved efficient and effective in novel disease gene discovery. It can also be used for a laboratory or clinic. |
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Presentation: A screen cast of the presentation will be available for viewing after the event on the NCI CBIIT Speaker Series YouTube Playlist
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Widget Connector url https://www.youtube.com/watch?v=fqE2Eq4yvbI&index=26&list=PLYKy4VbxNln5j89ESpYBVUkeFDbmQwxYG
About the NCI CBIIT Speaker Series:
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