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J Am Med Inform Assoc. 2014 Jan-Feb;21(1):31-6. doi: 10.1136/amiajnl-2013-001882. Epub 2013 Aug 29.

PhenDisco: phenotype discovery system for the database of genotypes and phenotypes.

Author information

1
Division of Biomedical Informatics, University of California San Diego, La Jolla, California, USA.

Abstract

The database of genotypes and phenotypes (dbGaP) developed by the National Center for Biotechnology Information (NCBI) is a resource that contains information on various genome-wide association studies (GWAS) and is currently available via NCBI's dbGaP Entrez interface. The database is an important resource, providing GWAS data that can be used for new exploratory research or cross-study validation by authorized users. However, finding studies relevant to a particular phenotype of interest is challenging, as phenotype information is presented in a non-standardized way. To address this issue, we developed PhenDisco (phenotype discoverer), a new information retrieval system for dbGaP. PhenDisco consists of two main components: (1) text processing tools that standardize phenotype variables and study metadata, and (2) information retrieval tools that support queries from users and return ranked results. In a preliminary comparison involving 18 search scenarios, PhenDisco showed promising performance for both unranked and ranked search comparisons with dbGaP's search engine Entrez. The system can be accessed at http://pfindr.net.

KEYWORDS:

DBGAP; GWAS; Information Retrieval; Natural Language Processing; Phenotype Standardization; Text Mining

PMID:
23989082
PMCID:
PMC3912702
DOI:
10.1136/amiajnl-2013-001882
[Indexed for MEDLINE]
Free PMC Article
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