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2015 ; 16
(ä): 55
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Extraction of relations between genes and diseases from text and large-scale data
analysis: implications for translational research
#MMPMID25886734
Bravo À
; Piñero J
; Queralt-Rosinach N
; Rautschka M
; Furlong LI
BMC Bioinformatics
2015[Feb]; 16
(ä): 55
PMID25886734
show ga
BACKGROUND: Current biomedical research needs to leverage and exploit the large
amount of information reported in scientific publications. Automated text mining
approaches, in particular those aimed at finding relationships between entities,
are key for identification of actionable knowledge from free text repositories.
We present the BeFree system aimed at identifying relationships between
biomedical entities with a special focus on genes and their associated diseases.
RESULTS: By exploiting morpho-syntactic information of the text, BeFree is able
to identify gene-disease, drug-disease and drug-target associations with
state-of-the-art performance. The application of BeFree to real-case scenarios
shows its effectiveness in extracting information relevant for translational
research. We show the value of the gene-disease associations extracted by BeFree
through a number of analyses and integration with other data sources. BeFree
succeeds in identifying genes associated to a major cause of morbidity worldwide,
depression, which are not present in other public resources. Moreover,
large-scale extraction and analysis of gene-disease associations, and integration
with current biomedical knowledge, provided interesting insights on the kind of
information that can be found in the literature, and raised challenges regarding
data prioritization and curation. We found that only a small proportion of the
gene-disease associations discovered by using BeFree is collected in
expert-curated databases. Thus, there is a pressing need to find alternative
strategies to manual curation, in order to review, prioritize and curate
text-mining data and incorporate it into domain-specific databases. We present
our strategy for data prioritization and discuss its implications for supporting
biomedical research and applications. CONCLUSIONS: BeFree is a novel text mining
system that performs competitively for the identification of gene-disease,
drug-disease and drug-target associations. Our analyses show that mining only a
small fraction of MEDLINE results in a large dataset of gene-disease
associations, and only a small proportion of this dataset is actually recorded in
curated resources (2%), raising several issues on data prioritization and
curation. We propose that joint analysis of text mined data with data curated by
experts appears as a suitable approach to both assess data quality and highlight
novel and interesting information.