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

 
TitlePhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features.
Publication TypeJournal Article
Year of Publication2013
AuthorsHamosh, A, Sobreira, N, Hoover-Fong, J, V Sutton, R, Boehm, C, Schiettecatte, F, Valle, D
JournalHum Mutat
Volume34
Issue4
Pagination566-71
Date Published2013 Apr
ISSN1098-1004
KeywordsDatabases, Factual, Genomics, Humans, Internet, Medical Informatics, Phenotype, Software
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 term from Elements of Morphology and are fully searchable and mapped to the Human Phenotype Ontology and Elements of Morphology. The PhenoDB allows for ascertainment of relevant information from a case in a family or cohort, which is then searchable by family, OMIM number, phenotypic feature, mode of inheritance, genes screened, and so on. The database can also be used to format phenotypic data for submission to dbGaP for appropriately consented individuals. PhenoDB was built using Django, an open source Web development tool, and is freely available through the Johns Hopkins McKusick-Nathans Institute of Genetic Medicine (http://phenodb.net).

DOI10.1002/humu.22283
Alternate JournalHum. Mutat.
PubMed ID23378291
PubMed Central IDPMC3627299
Grant List1U54HG006542 / HG / NHGRI NIH HHS / United States
U54 HG003273 / HG / NHGRI NIH HHS / United States
U54 HG006542 / HG / NHGRI NIH HHS / United States