19th International CODATA Conference
Category: Poster, Knowledge Discovery

Online Mendelian Inheritance in Korean (OMIK), establishment of the database system for genetic diseases found in Korean population

Hyung-Seon Park (seonpark@kisti.re.kr), Center for Computational Biology & Bioinformatics, Korea Institute of Science and Technology Information, Republic of Korea
Hyun-Ju Kim, Department of medical genetics, School of Medicine, Ajou University, Suwon, Korea
Soon-Chan Hong, Center for Computational Biology & Bioinformatics, Korea Institute of Science and Technology Information, Republic of Korea
Sang-Joo Lee, Center for Computational Biology & Bioinformatics, Korea Institute of Science and Technology Information, Republic of Korea
Hyeon S. Son, Bioinformatics Department, School of Public Health, Seoul National University

Databasing of the case study in genetic disease found in Korean patients has performed. The research reports and published papers related to genetic disorder in Korean patient since early 1980s and the case of genetic disease reported in the pediatrics in Ajou Medical School were collected. By the sorting process, the information on these has build up in database system. The information included chromosomal, dysmorphic and single gene disorders were analyzed and edited in OMIK (http://omik.kisti.re.kr).

The total number of published paper that registered in OMIK is 483 cases until now. Among these papers the total number of single genetic diseases reported recently is 143 cases, and 134 published papers were added to the references, which were reported earlier. The total number of published papers collected in department of medical genetics in Ajou University is 73 cases (26% of the total number of registration) and 204 published papers (74% of total number of registration) were collected in other fields of clinical research. The information field contains name, MIM number, clinical observation, inheritance patterns, references, allelic variants, cytogenetic location, defective gene products, linkage information and data lastly edited. The characteristic of each disease cases, the description of patients, the analysis of gene mutations and the available images were inputted as well. All the case entries were shown the statistics that divided into few groups; established genes or phenotype loci (*) is 218, phenotype descriptions (#) are 168 and other loci or phenotypes (no prefix) is 97. The entry is categorized in Autosomal (dominant, recessive), X-Linked, Y-Linked, Mitochondrial and Uncategorized, and also it has shown that the pattern comparison between OMIM and OMIK. When retrieve information by text or abstract, the related diseases will be listed up by search program and it keeps a link to OMIM and connects to GDB as well. An interface developed that can assort genetic disease according to the chromosome number. In addition, the contents of the genome database has included such as locus (loci; included Genbank number), polymorphism, mutation, probes, citations, maps (linkage and physical maps), cell line definition and DNA library description.

For the system management for continuous updating, we are expecting not only continuous and active participation of clinical experts but also a system development for self-updating by the inserting data from the case occurred in the field of clinicians and relevant medical researchers and practitioners. We hope that this could determine thoroughly the clinical patterns, characteristics and classifications of genetic diseases in Korean in the very near future by this effort.

Key word: OMIK, database system, genetic disorder, Autosomal (dominant, recessive), X-Linked, Y-Linked, Mitochondrial