An integrated database-pipeline system for studying single nucleotide polymorphisms and diseases

Background: Studies on the relationship between disease and genetic variations such as single nucleotide polymorphisms (SNPs) are important. Genetic variations can cause disease by influencing important biological regulation processes. Despite the needs for analyzing SNP and disease correlation, most existing databases provide information only on functional variants at specific locations on the genome, or deal with only a few genes associated with disease. There is no combined resource to widely support gene-, SNP-, and disease-related information, and to capture relationships among such data. Therefore, we developed an integrated database-pipeline system for studying SNPs and diseases. Results: To implement the pipeline system for the integrated database, we first unified complicated and redundant disease terms and gene names using the Unified Medical Language System (UMLS) for classification and noun modification, and the HUGO Gene Nomenclature Committee (HGNC) and NCBI gene databas...

• Type: Journal
• Year: 2008
• Where: BMCBI
• Authors: Jin Ok Yang, Sohyun Hwang, Jeongsu Oh, Jong Bhak, Tae-Kwon Sohn
• Keywords: BMCBI 2008, Databases, Disease, SNPs