MARS: Mutation Analysis Reporting System for Human Genetic Disease
Byeong-Chul Kang1, Jun-Hyung Park2, In-Joo Kim, Hyo-Myung Kim, Hee-Kyung Park, and Cheol-Min Kim
1bckang@pusan.ac.kr, Interdisciplinary Program of Bioinformatics, Graduate School, Pusan National University; 2jhaprk98@pusan.ac.kr, Busan Genome Center, College of Medicine, Pusan National University
MARS is an intelligent diagnosis system for human genetic disease. The MARS consists of comprehensive database of human genetic disease information(dbSNP, OMIM, HGMD, etc.) and mutation detection system. The MARS automatically finds mutation candidates (including information of position, base, type, etc.) in specific genes from electropherograms of clinical samples (i.e. DNA sequences), and then estimates their reliabilities to confirm whether real mutation or base-calling error. Finally the system links sequence data to mutation-specific information in diverse databases publicly available. MARS is implemented as extensible system with relational database management system and user-friendly web-interface. And the system integrates a set of softwares for database building and curation, mutation detection algorithm with quality estimation of each mutation, and secured authorization module for protection of private genetic information. MARS presents useful information not only for medical doctors to diagnose genetic disease, but also scientists to research linkage of gene mutation and genetic disease. Also the system can be useful to take counsel with patients and/or people who have high risk for genetic disease. The first release of MARS contains genetic information of MECP2 related with Rett syndrome. Current release of MARS is available at http://www.genome.re.kr/mars/ .