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Communicated by Richard G.H. Cotton
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Meeting Report
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Mutations, structural variations, and genome-wide resequencing: where to from here in our understanding of disease and evolution?†
Article first published online: 10 APR 2008
DOI: 10.1002/humu.20781
© 2008 Wiley-Liss, Inc.
Additional Information
How to Cite
Tabone, T. (2008), Mutations, structural variations, and genome-wide resequencing: where to from here in our understanding of disease and evolution?. Human Mutation, 29: 886–890. doi: 10.1002/humu.20781
- †
Publication History
- Issue published online: 22 MAY 2008
- Article first published online: 10 APR 2008
- Manuscript Revised: 14 FEB 2008
- Manuscript Accepted: 14 FEB 2008
- Manuscript Received: 14 JAN 2008
- Abstract
- References
- Cited By
Keywords:
- mutation detection;
- SNP;
- screening;
- structural variation;
- bioinformatics;
- databases
Abstract
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. Hum Mutat 29(6), 886–890, 2008. © 2008 Wiley-Liss, Inc.