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

Human genome polymorphism is expected to play a key role in defining the et iologic basis of phenotypic differences between individuals in aspects such as drug responses and common disease predisposition, Relevant functional D NA changes will probably be located in or near to transcribed sequences, an d include many single nucleotide polymorphisms. To aid the future analysis of such genome variation, HGBASE (Human Genic Bi-Allelic SEquences) was con structed as a means to gather human gene-linked polymorphisms from all poss ible public sources, and show these as a non-redundant set of records in a standardized and user-friendly database endowed with text and sequence base d search facilities, After 1 year of presence on the WWW, the HGBASE projec t has compiled data for over 22 000 records, and this number continues to t riple every 6-12 months with data harvested or submitted from all major pub lic genome databases and published literature from the previous decade. Ext ensive annotation enhancement, internal consistency checking and manual rev iew of every record is undertaken to address potential errors and deficienc ies sometimes present in the original source data. The fully polished and c omprehensive database is made freely available to all at http://hgbase.cgr. ki.se.