PhenCode: Paving the Path between Phenotype and Genome

PhenCode is a collaborative project to better understand the relationship between genotype and phenotype in humans. It connects human phenotype and clinical data in various locus-specific mutation databases (LSDBs) with data on genome sequences, evolutionary history, and function in the UCSC Genome Browser. PhenCode is a collaboration among researchers at Penn State, UC Santa Cruz, and locus experts at other institutions.

Information for users:

• Introduction
• How to view PhenCode tracks at the Genome Browser
• Examples
• Frequently asked questions
• Mailing list for announcements
• Contact us

Additional information for database curators:

• Participating in PhenCode
• Invitation handout from HGVS meeting (Oct 2006)
• Guidelines for data conversion
• Example of adding a new data source

Publications and Presentations:

Please cite:

• Giardine, B. et al. (2007) PhenCode: connecting ENCODE data with mutations and phenotype. Hum Mutat. 28:554-562.   [abstract]

Additional reports:

• Miller, W. et al. (2007) 28-way vertebrate alignment and conservation track in the UCSC genome browser. Genome Res., in press.
• Poster from ASHG meeting (Oct 2007)
• Poster from CSHL meeting (May 2007)
• Poster from ASHG meeting (Oct 2006)

return to CCGB homepage