HGBASE: a database of SNPs and other variations in and around human genes

摘要: Human genome polymorphism is expected to play a key role in defining the etiologic basis of phenotypic differences between individuals aspects such as drug responses and common disease predisposition. Relevant functional DNA changes will probably be located or near transcribed sequences, include many single nucleotide polymorphisms. To aid future analysis variation, HGBASE (Human Genic Bi-Allelic SEquences) was constructed means gather human gene-linked polymorphisms from all possible public sources, show these non-redundant set records standardized user-friendly database endowed with text sequence based search facilities. After 1 year presence on WWW, project has compiled data for over 22 000 records, this number continues triple every 6–12 months harvested submitted major databases published literature previous decade. Extensive annotation enhancement, internal consistency checking manual review record undertaken address potential errors deficiencies sometimes present original source data. The fully polished comprehensive made freely available at http://hgbase.cgr.ki.se