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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 J+Am+Med+Inform+Assoc
2016 ; 23
(4
): 766-72
Nephropedia Template TP
gab.com Text
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English Wikipedia
Text mining for precision medicine: automating disease-mutation relationship
extraction from biomedical literature
#MMPMID27121612
Singhal A
; Simmons M
; Lu Z
J Am Med Inform Assoc
2016[Jul]; 23
(4
): 766-72
PMID27121612
show ga
OBJECTIVE: Identifying disease-mutation relationships is a significant challenge
in the advancement of precision medicine. The aim of this work is to design a
tool that automates the extraction of disease-related mutations from biomedical
text to advance database curation for the support of precision medicine.
MATERIALS AND METHODS: We developed a machine-learning (ML) based method to
automatically identify the mutations mentioned in the biomedical literature
related to a particular disease. In order to predict a relationship between the
mutation and the target disease, several features, such as statistical features,
distance features, and sentiment features, were constructed. Our ML model was
trained with a pre-labeled dataset consisting of manually curated information
about mutation-disease associations. The model was subsequently used to extract
disease-related mutations from larger biomedical literature corpora. RESULTS: The
performance of the proposed approach was assessed using a benchmarking dataset.
Results show that our proposed approach gains significant improvement over the
previous state of the art and obtains F-measures of 0.880 and 0.845 for prostate
and breast cancer mutations, respectively. DISCUSSION: To demonstrate its
utility, we applied our approach to all abstracts in PubMed for 3 diseases
(including a non-cancer disease). The mutations extracted were then manually
validated against human-curated databases. The validation results show that the
proposed approach is useful in a real-world setting to extract uncurated disease
mutations from the biomedical literature. CONCLUSIONS: The proposed approach
improves the state of the art for mutation-disease extraction from text. It is
scalable and generalizable to identify mutations for any disease at a PubMed
scale.