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下一代测序的影响:2009 年人类基因组变异学会科学会议。

Impact of next generation sequencing: the 2009 Human Genome Variation Society Scientific Meeting.

机构信息

College of Pharmacy and Institute of Human Genetics, University of Minnesota, 420 Delaware Street SE, Minneapolis, MN 55455, USA.

出版信息

Hum Mutat. 2010 Apr;31(4):500-3. doi: 10.1002/humu.21210.

Abstract

The annual scientific meeting of the Human Genome Variation Society (HGVS) was held on the 20th of October, 2009, in Honolulu, Hawaii. The theme of this meeting was the "Impact of Next Generation Sequencing." Presenters spoke on issues ranging from advances in the technology of large-scale genome sequencing to how this information can be analyzed to uncover genetic variants associated with disease. Many of the challenges resulting from the implementation of these new technologies were presented, but possible solutions, or at least paths to the solutions, were also given. With the combined efforts of investigators using next-generation sequencing to help understand the impact of genetic variants on disease, the use of the personal genome in medicine will soon become a reality.

摘要

人类基因组变异学会(HGVS)的年度科学会议于 2009 年 10 月 20 日在夏威夷火奴鲁鲁举行。本次会议的主题是“下一代测序的影响”。演讲者就从大规模基因组测序技术的进展到如何分析这些信息以发现与疾病相关的遗传变异等问题进行了演讲。提出了实施这些新技术所带来的许多挑战,但也给出了可能的解决方案,或者至少是解决问题的途径。随着研究人员利用下一代测序来帮助理解遗传变异对疾病的影响,个人基因组在医学中的应用将很快成为现实。

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