高分辨率芯片的技术优势揭示了基因组DNA拷贝数变异是基因组变异的重要成因，目前认为相比SNP，寡核苷酸变异更多的是源于基因组DNA拷贝数变异。随着基因组范围拷贝数变异的高分辨率定位的出现，基因组结构变异对于疾病表型的影响日益成为研究热点。罗氏NimbleGen相应开发了一系列高分辨率比较基因组杂交和拷贝数变异芯片，探针密度高达二百一十万，可做全面的DNA拷贝数变异分析。

      美国Signature Genomic 实验室是北美最大的可提供全套细胞遗传学诊断服务和基因芯片分析服务的私人实验室，在北美处理样品量超过65%，该实验室也是第一家提供基于芯片的个人诊断检测实验室，目前使用罗氏NimbleGen芯片平台提供服务。此次罗氏应用科学部特邀来自美国Signature Genomic实验室的Trilochan Sahoo博士，介绍“利用芯片技术研究细胞遗传学：对人类基因组健康和疾病的全新解读”。

与会者将现场获得精美礼品一份, 诚挚邀请您的莅临！

时间：2009年11月9日 下午13：30－16：00
地点：中国医学科学院肿瘤研究所，科研楼阶梯教室
           北京市朝阳区潘家园南里17号

主讲人：

Trilochan Sahoo博士
Signature Genomic 实验室主任

1992-2000    在美国杜克大学医学中心微生物系及遗传系进行博士后研究；
2000-2001    任贝勒医学院人类遗传分子系助理研究员；
2002-2008    任贝勒医学院人类遗传分子系副教授；
2005-2008    贝勒医学院医学遗传学实验室细胞遗传学实验室副主任；
2008.7--        Signature Genomic 实验室主任。

专业会员资格
美国人类遗传学协会会员
美国医学遗传学学院成员

Peter Matthiesen 博士
罗氏NimbleGen全球市场总监

      Peter Matthiesen于1999年获德国Kiel大学生物学博士学位。在德国汉堡分子诊断实验室工作后，于2000年作为罗氏德国分子诊断的研发部门负责人致力于PCR诊断测试的开发。Peter在罗氏任职产品经理和市场部经理后，于2007年加入罗氏 NimbleGen 作为全球市场经理负责欧洲、亚洲和日本的市场工作。

讲座日程安排

讲座内容：

The evolution of high resolution microarray-based comparative genomic hybridization has revolutionized cytogenetics over the last few years. The introduction of this technology into the molecular cytogenetics laboratory now enables rapid identification of numerous microdeletion-microduplication syndromes, many of which are novel and had hitherto been unidentifiable. The extensive use of this technology has empowered geneticists in identifying many complex genetic and genomic disorders and often enabled identification of causative genes for certain phenotypes. Importantly, the extensive data generated from array-CGH testing has led to a greater appreciation of the complexities of the human genome, and to better differentiate between benign copy number variations and those with a more adverse impact upon disease phenotype. The development, validation and implementation of newer array-CGH technologies have greatly advanced our ability to generate useful data. Our current understanding of the technology permits us to predict that extensive use of these methodologies will profoundly impact the identification of novel genomic disorders and a better understanding of the genetic mechanisms involved The data presented should provide an overview of the design and extensive use of our whole-genome array that interrogates over 3400 genomic loci across the genome and has helped identify most known disorders resulting from copy number alterations with great degree of specificity and sensitivity; and the unraveling a number of novel genetic syndromes.

2、利用罗氏NimbleGen芯片进行高分辨率拷贝数变异检测

Recent advances in high-resolution microarray technology have revealed genomic DNA copy number variation as a significant source of genome variation, now thought to account for more nucleotide variation than SNPs. Until recently, the recognized contribution of genome structural variation to human disease has been limited to rare genomic disorders (e.g. Trisomy 21, Prader-Willi Syndrome). However, with the emergence of high-resolution maps of genome-wide copy number variants (CNVs), their impact on disease phenotypes has become a key research focus.? Roche NimbleGen has developed a suite of high-resolution CGH and CNV arrays with up to 2.1 million probes for comprehensive analysis of DNA copy number variation. In addition to the 2.1M array format, 3x720K and 12x135K multiplex arrays are available for higher throughput and cost-effective analysis. The information presented will provide an overview of the NimbleGen CGH/CNV array portfolio, complete microarray workflow, and application for genetic disease, cancer, and model organism research.

      报名时间截止到2009年11月4日，由于场地有限，我们将与每场的前50名报名者以电话或邮件确认参会信息。

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               感谢您长期以来对罗氏诊断优质产品和解决方案的支持与信任！期待着您的光临！