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.
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.