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10.1093/jamia/ocw041

http://scihub22266oqcxt.onion/10.1093/jamia/ocw041
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suck abstract from ncbi


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pmid27121612
      J+Am+Med+Inform+Assoc 2016 ; 23 (4 ): 766-72
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  • 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.
  • |*Machine Learning [MESH]
  • |*Mutation [MESH]
  • |*Precision Medicine [MESH]
  • |Breast Neoplasms/*genetics [MESH]
  • |Computational Biology [MESH]
  • |Data Mining/*methods [MESH]
  • |Databases as Topic [MESH]
  • |Female [MESH]
  • |Humans [MESH]
  • |Male [MESH]
  • |Prostatic Neoplasms/*genetics [MESH]


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