Karyotyping, or visually examining and recording chromosomal abnormalities, is commonly used to diagnose and treat disease. Karyotypes are written in the International System for Human Cytogenetic Nomenclature (ISCN), a computationally non-readable language that precludes full analysis of these genomic data. In response, we developed a cytogenetic platform that transfers the ISCN karyotypes to a machine-readable model available for computational analysis. Here we use cytogenetic data from the National Cancer Institute (NCI)-curated Mitelman database1 to create a structured karyotype language. Then, drug-gene-disease triplets are generated via a computational pipeline connecting public drug-gene interaction data sources to identify potential drug repurposing opportunities.

Original languageEnglish
Title of host publicationMEDINFO 2015
Subtitle of host publicationeHealth-Enabled Health - Proceedings of the 15th World Congress on Health and Biomedical Informatics
EditorsAndrew Georgiou, Indra Neil Sarkar, Paulo Mazzoncini de Azevedo Marques
PublisherIOS Press
Number of pages1
ISBN (Electronic)9781614995630
StatePublished - 2015
Event15th World Congress on Health and Biomedical Informatics, MEDINFO 2015 - Sao Paulo, Brazil
Duration: Aug 19 2015Aug 23 2015

Publication series

NameStudies in Health Technology and Informatics
ISSN (Print)0926-9630
ISSN (Electronic)1879-8365


Conference15th World Congress on Health and Biomedical Informatics, MEDINFO 2015
CitySao Paulo


  • Cytogenetics
  • Drug repurposing
  • Karyotype
  • Text mining


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