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ICT for Health Science Research 189 A. Shabo (Shvo) et al. (Eds.)
© 2019 The European Federation for Medical Informatics (EFMI) and IOS Press.
This article is published online with Open Access by IOS Press and distributed under the terms

of the Creative Commons Attribution Non-Commercial License 4.0 (CC BY-NC 4.0). doi:10.3233/978-1-61499-959-1-189
 

Discovering Monogenic Causes of Multi-Diseases by Mining Electronic Medical Records and Genetics Repositories
 

Adnan KULENOVIC, Azra LAGUMDZIJA-KULENOVIC

A ! A – Absolute Information Age, Inc. Toronto, Canada.
 

Abstract. We present a method called SMDG (Single Multi-Disease Genes) for systematically discovering monogenic causes of multi-diseases. Multidisease conditions, quite common in older populations, are difficult to treat due to the absence of precise medical guidelines and the need for the attention of multiple healthcare providers. Finding monogenic causes of these diseases would enable new therapeutic approaches focused on the remediation of mutations of single genes. SMDG is based on the hierarchical divisive clustering of electronic medical records (EMR), including genetic data and the analysis of public gene-to-disease and gene-to-gene repositories. The method was tested on the Harvard Personal Genome Project (PGP) database, the gene-to-disease repository DisGeNET and the gene-to-gene interactions repository BioGRID. It identified possible new monogenic causes of selected multi-diseases, which were confirmed as valid hypotheses by examining related research papers.
 

https://pubmed.ncbi.nlm.nih.gov/30942743/

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