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

机译:突变,结构变异和全基因组重测序:我们对疾病和进化的理解从何而来?

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摘要

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.
机译:第九届国际基因组突变研讨会,2007年突变检测,于2007年9月23日至27日在中国厦门举行。与会者报告了突变检测技术及其应用方面的广泛进展,包括适用于即时诊断的SNP基因分型系统的发展;关于结构变异,高通量测序以及生物信息工具对支持不断增长的基因组变异数据的重要性的新兴观点。本次会议报告总结了会议提出的主要主题。

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