Abstract
BackgroundA disease-causing mutation refers to a heritable genetic change that is associated with a specific phenotype (disease). The detection of a mutation from a patient's sample is critical for the diagnosis, treatment, and prognosis of the disease. There are numerous databases and applications with which to archive mutation data. However, none of them have been implemented with any automated bioinformatics tools for mutation detection and analysis starting from raw data materials from patients. We present a Locus Specific mutation DB (LSDB) construction system that supports both mutation detection and deposition in one package.ResultsCOMUS (Clinician-Oriented locus specific MUtation detection and deposition System) is a mutation detection and deposition system for developing specific LSDBs. COMUS contains 1) a DNA sequence mutation analysis method for clinicians' mutation data identification and deposition and 2) a curation system for variation detection from clinicians' input data. To embody the COMUS system and to validate its clinical utility, we have chosen the disease hemophilia as a test database. A set of data files from bench experiments and clinical information from hemophilia patients were tested on the LSDB, KoHemGene http://www.kohemgene.org, which has proven to be a clinician-friendly interface for mutation detection and deposition.ConclusionCOMUS is a bioinformatics system for detecting and depositing new mutations from patient DNA with a clinician-friendly interface. LSDBs made using COMUS will promote the clinical utility of LSDBs. COMUS is available at http://www.comus.info.
Highlights
A disease-causing mutation refers to a heritable genetic change that is associated with a specific phenotype
We have developed a simple Locus Specific mutation DB (LSDB) construction system that supports mutation detection and deposition to promote easier mutation data submission and maintenance http:// www.comus.info
Because COMUS makes it possible to work with an integrated mutation prediction system, anyone, especially the major variation detectors who are often clinicians or field workers, can be curators
Summary
A disease-causing mutation refers to a heritable genetic change that is associated with a specific phenotype (disease). We present a Locus Specific mutation DB (LSDB) construction system that supports both mutation detection and deposition in one package. Medical researchers have had to go through mutations in patient DNA to detect mutations that may be the cause of a disease [4,5]. There are many human disease gene databases that contain disease-causing mutation information as locus-specific databases (LSDBs). Large databases, such as Online Mendelian Inheritance in Man (OMIM) [6] and the Human Gene Mutation Database (HGMD) [7], collect and describe comprehensively all disease-related genes. The LSDBs aim to provide particular genetic mutation information for disease-causing genes. The key activities of HGVS for LSDB construction were: 1) collecting mutations and databases by inviting reviewers of mutations, 2) creating guidelines for mutation nomenclature, 3) initiating quality control of LSDB content, and 4) specifying the minimum content of LSDBs [8]
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