Sequential pattern mining to discover relations between genes and rare diseases

Abstract

Orphanet provides an international web-based knowledge portal for rare diseases including a collection of review articles. However, reviews and literature monitoring are manual. Thus, new documentation about a rare disease is a time-consuming process and automatically discovering knowledge from a large collection of texts is a crucial issue. This context represents a strong motivation to address the problem of extracting gene-rare diseases relationships from texts. In this paper, we tackle this issue with a cross-fertilization of information extraction and data mining techniques (sequential pattern mining under constraints). Experiments show the interest of the method for the documentation of rare diseases.