Towards building a disease-phenotype knowledge base: extracting disease-manifestation relationship from literature.

ABSTRACT:

Motivation

Systems approaches to studying phenotypic relationships among diseases are emerging as an active area of research for both novel disease gene discovery and drug repurposing. Currently, systematic study of disease phenotypic relationships on a phenome-wide scale is limited because large-scale machine-understandable disease-phenotype relationship knowledge bases are often unavailable. Here, we present an automatic approach to extract disease-manifestation (D-M) pairs (one specific type of disease-phenotype relationship) from the wide body of published biomedical literature.

Data and methods

Our method leverages external knowledge and limits the amount of human effort required. For the text corpus, we used 119 085 682 MEDLINE sentences (21 354 075 citations). First,

SUBMITTER: Xu R 

PROVIDER: S-EPMC4068009 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature