Mutations, structural variations, and genome-wide resequencing: where to from here in our understanding of disease and evolution?

The 9th International Symposium on Mutations in the Genome, Mutation Detection 2007, was held on 23-27 September 2007 in Xiamen, China. Meeting participants reported on a broad range of advances in mutation detection technologies and their applications, including developments in SNP genotyping systems applicable to point-of-care diagnostic testing; and emerging views on structural variation, high-throughput sequencing and the importance of bioinformatic tools to support the growing amounts of genome variation data. This meeting report summaries the major themes presented at the meeting.