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Chunk #2 — 2 IMPLEMENTATION

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Phenopedia and Genopedia: disease-centered and gene-centered views of the evolving knowledge of human genetic associations.
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As components of the integrated knowledge base on human genome epidemiology (HuGE Navigator) (Yu et al., 2008b), Phenopedia and Genopedia were built on J2EE technology (http://java.sun.com/javaee/) and on other Java open source frameworks such as Hibernate (http://www.hibernate.org/), Strut (http://struts.apache.org/), JChart (http://jcharts.krysalis.org/) and Google MAP API (http://www.google.com/apis/maps/documentation/). The database contains a curated collection of records retrieved weekly from PubMed since 2001. Each week, an automatic literature screening program (Yu et al., 2008a) screens PubMed for abstracts reporting gene–disease associations. A genetic epidemiologist selects abstracts meeting inclusion criteria and indexes them by gene, category and study type (Lin et al., 2006; Supplementary Table). Once staff of the National Center for Biotechnology Information (NCBI) has assigned Medical Subject Headings (MeSH) terms to abstracts in PubMed, they are retrieved using (NCBI) E-Utilities (http://eutils.ncbi.nlm.nih.gov/entrez/query/static/eutils_help.html) and used to index the records in the HuGE Navigator database. Disease terms in HuGE Navigator include all MeSH terms under the disease category in MeSH terminology (http://www.ncbi.nlm.nih.gov/sites/entrez?db=mesh). The metathesaurus in the Unified Medical Language System (Lindberg et al., 1993) is used as a lookup table for disease term synonyms. Entrez