Learning to recognize phenotype candidates in the auto-immune literature using SVM re-ranking

PLoS One. 2013 Oct 14;8(10):e72965. doi: 10.1371/journal.pone.0072965. eCollection 2013.

Abstract

The identification of phenotype descriptions in the scientific literature, case reports and patient records is a rewarding task for bio-medical text mining. Any progress will support knowledge discovery and linkage to other resources. However because of their wide variation a number of challenges still remain in terms of their identification and semantic normalisation before they can be fully exploited for research purposes. This paper presents novel techniques for identifying potential complex phenotype mentions by exploiting a hybrid model based on machine learning, rules and dictionary matching. A systematic study is made of how to combine sequence labels from these modules as well as the merits of various ontological resources. We evaluated our approach on a subset of Medline abstracts cited by the Online Mendelian Inheritance of Man database related to auto-immune diseases. Using partial matching the best micro-averaged F-score for phenotypes and five other entity classes was 79.9%. A best performance of 75.3% was achieved for phenotype candidates using all semantics resources. We observed the advantage of using SVM-based learn-to-rank for sequence label combination over maximum entropy and a priority list approach. The results indicate that the identification of simple entity types such as chemicals and genes are robustly supported by single semantic resources, whereas phenotypes require combinations. Altogether we conclude that our approach coped well with the compositional structure of phenotypes in the auto-immune domain.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Artificial Intelligence
  • Autoimmune Diseases / pathology*
  • Data Mining*
  • Entropy
  • Humans
  • Male
  • Mice
  • Models, Theoretical
  • Phenotype
  • Semantics
  • Support Vector Machine*
  • Vocabulary, Controlled

Grants and funding

NC is supported by an EC Marie Curie International Incoming Fellowship grant (http://ec.europa.eu/research/mariecurieactions/index_en.htm) for project Phenominer (project number 301806). MT and HL are supported by a National Institute of Informatics internship grant (www.nii.ac.jp). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.