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

ABSTRACT: 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 analysis of phenotypic and other clinical information. The phenotypic features are organized hierarchically according to the major headings and subheadings of the Online Mendelian Inheritance in Man (OMIM®) clinical synopses, with further subdivisions according to structure and function. Every string allows for a free-text entry. All of the approximately 2,900 features use the preferred t

SUBMITTER: Hamosh A 

PROVIDER: S-EPMC3627299 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature