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PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features.

Human mutation - 1 Apr 2013

Hamosh Ada, Sobreira Nara, Hoover-Fong Julie, Sutton V Reid, Boehm Corinne, Schiettecatte François, Valle David

Abstract excerpt

To interpret whole exome/genome sequence data for clinical and research purposes, comprehensive phenotypic information, knowledge of pedigree structure, and results of previous clinical testing are essential. With these requirements in mind and to meet the needs of the Centers for Mendelian Genomics project, we have developed PhenoDB (http://phenodb.net), a secure, Web-based portal for entry, storage, and...

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PMID: 23378291
DOI: 10.1002/humu.22283
PMCID: PMC3627299

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