Computer Based Extraction of Phenoptypic Features of Human Congenital Anomalies from the Digital Literature with Natural Language Processing Techniques

Karakulah G., DİCLE O., Kosaner O., SUNER KARAKÜLAH A., Birant C. C., BERBER T., ...More

25th European Medical Informatics Conference (MIE), İstanbul, Turkey, 31 August - 03 September 2014, vol.205, pp.570-574 identifier identifier identifier

  • Publication Type: Conference Paper / Full Text
  • Volume: 205
  • Doi Number: 10.3233/978-1-61499-432-9-570
  • City: İstanbul
  • Country: Turkey
  • Page Numbers: pp.570-574
  • Keywords: Human congenital anomalies, information extraction, natural language processing, text processing, clinical decision support, YIELD
  • Karadeniz Technical University Affiliated: Yes


The lack of laboratory tests for the diagnosis of most of the congenital anomalies renders the physical examination of the case crucial for the diagnosis of the anomaly; and the cases in the diagnostic phase are mostly being evaluated in the light of the literature knowledge. In this respect, for accurate diagnosis, it is of great importance to provide the decision maker with decision support by presenting the literature knowledge about a particular case. Here, we demonstrated a methodology for automated scanning and determining of the phenotypic features from the case reports related to congenital anomalies in the literature with text and natural language processing methods, and we created a framework of an information source for a potential diagnostic decision support system for congenital anomalies.