Frequently Asked Questions (FAQs)

myPhenoDB is a freely-accessible website that allow clinical researchers to store standardized phenotypic information, diagnosis, and pedigree data and then run analyses on VCF files from individuals, families or cohorts with suspected Mendelian disease. This web site is intended for interested researchers to test it on their samples before downloading the software for their own institutional use or for those researchers who do not have access to robust IT support.

See the About page for more information.

myPhenoDB was developed by the Baylor-Hopkins Center for Mendelian Genomics at the McKusick-Nathans Institute of Genetic Medicine at JHU funded by the NHGRI. The website is supported by the Sutland-Pakula family.

Use this citation:

Sobreira N, Schiettecatte F, Boehm C, Valle D, Hamosh A. New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene. Hum Mutat. 2015 Apr;36(4):425-31. doi: 10.1002/humu.22769. PubMed: 25684268.

Another paper that discusses myPhenoDB is:

Sobreira N, Schiettecatte F, Boehm C, Valle D, Hamosh A. 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. PubMed: 23378291.

This website is hosted at Johns Hopkins University (JHU) and is HIPAA compliant and secure, but only de-identifed data should be loaded onto this website. In order to use myPhenoDB, you must create an account, and only your data will be accessible to you. Only the site administrator has access to all the data. If you wish to load a VCF file for analysis, it will be immediately converted to an ANNOVAR file. The ANNOVAR file will be available to you to run any analysis, but note that they will be automatically deleted 24 hours after you last log out. However your analysis results and final result table will remain on the site. You may redo an analysis at any time by re-uploading a VCF file.

The ANNOVAR conversion software comes from OpenBioinformatics and may only be used by academic users. No commercial use is permitted by their license.