A semi-automated system for analysis and storage of SNPs

The discovery of single nucleotide polymorphisms (SNPs) is currently pursue d with a tremendous effort. SNPs represent a rich source for molecular mark ers, since estimations predict six to seven million of these DNA variations in the human genome. A subset of these genetic variants is thought to have a pervasive impact on modern medicine, be it for the elucidation of differ ential pharmaco logical response or for the facilitated identification of g enes involved in monogenetic and complex human diseases. Here we describe t he overall process that leads to the set up of a SNP database. We describe a high throughput sequencing assay for SNP discovery, automation of the dat aflow from the DNA sequencer to the SNP analysis, and the tools to facilita te: it. At the end of the process, a web accessible interface collects the SNP information, which is processed in order to be written into the SNP dat abase and to be available for end users who would like to select appropriat e SNPs for their special screening needs. Hum Mutat 17:243-254, 2001. (C) 2 001 Wiley-Liss, Inc.