The Seventh International Symposium on Mutations in the Human Genome, Mutation Detection 2003, was held during 2–6 July 2003 in Palm Cove near Cairns, Australia. The meeting was organized under the auspices of the Human Genome Organisation (HUGO) as a satellite meeting of the International World Congress of Genetics, held in Melbourne the following week. Meeting participants reported on advances in mutation detection technologies, including advances in high-throughput detection systems for SNP genotyping applicable to the international haplotype mapping project (HapMap); and bioinformatics tools, including databases for handling and processing growing amounts of genome variation data. This meeting report summarizes the presentations and cites related articles from the special issue of Human Mutation (Volume 23#5, May 2004; available online at www.wiley.com/humanmutation). Hum Mutat 23:401–405, 2004. © 2004 Wiley-Liss, Inc.