About Research PhenoDB

ResearchPhenoDB is a research tool developed by the Baylor-Hopkins Center for Mendelian Genomics for the Centers for Mendelian Genomics. It is comprised of Phenotype Module which is designed to collect, store and analyze standardized phenotypic information and an ELSI Module to collect consents and committee discussions. These are described in:

Hamosh A, Sobreira N, Hoover-Fong J, Sutton VR, Boehm C, Schiettecatte F, Valle D. PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features. Hum Mutat. 2013 Apr;34(4):566-71. doi: 10.1002/humu.22283. Epub 2013 Mar 4. PMID: 23378291

In addition, ResearchPhenoDB also includes an Analysis Module for variant filtering and evaluation and a Sample Tracking Module for tracking consents and samples through the research pipeline. These are described in detail in a paper under review.

ResearchPhenoDB is available for download only, after registration. To try out the Phenotype and Analysis Modules, please create an account at MyPhenoDB. MyPhenoDB is hosted at Johns Hopkins for those who want to test out the software and those without IT support or sufficient volume to merit installation at their own center. It is toggled to a fully de-identified state and does not allow upload of data. It is available for download and can be toggled to a fully identified state. Because it is not designed for a research project both the ELSI and Sample Tracking Modules are excluded from MyPhenoDB.