Communication Dans Un Congrès Année : 2012

Sequential Pattern Mining to Discover Relations between Genes and Rare Diseases

Peggy Cellier
Thierry Charnois
Marie-Christine Jaulent

Résumé

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.

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hal-01023713 , version 1 (15-04-2025)

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Nicolas Béchet, Peggy Cellier, Thierry Charnois, Bruno Crémilleux, Marie-Christine Jaulent. Sequential Pattern Mining to Discover Relations between Genes and Rare Diseases. 25th IEEE International Symposium on Computer-Based Medical Systems (CBMS'12), Jun 2012, Rome, Italy. ⟨10.1109/CBMS.2012.6266367⟩. ⟨hal-01023713⟩
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