Roche将推出多样本混合基因实验方案.doc

Roche将推出多样本混合基因实验方案二代测序技术正在不断突破高通量以及低测序成本的极限。定向测序更是当前最有效控制测序成本同时获得关键序列信息的首选。NimbleGen即将推出序列捕获前的多样本混合实验方案，希望以此更好地优化序列捕获技术以配合二代测序平台的高通量，进而减少实验时间并降低测序费用。这一新技术利用不同条形码序列来结合不同样本，然后混合一次实验中进外显子或定制目标区域的液相捕获。罗氏NimbleGen的首席执行官Frank Pitzer说：“我们很高兴向所有研究人员突出这个高效而且低成本的实验方案。相信通过这一方法，研究人员可以提高研究项目的样本通量，以此增强研究项目在统计学上的重要性。”多样本混合实验方案的同时，新一代的外显子液相捕获产品也会同时推出。这一新产品将可捕获64M的基因组序列，包括所有外显子以及miRNA，它含与其他NimbleGen液相捕获产品相同的2.1M高密度探针，以确保高效、均一、特异、全面的定向捕获，将成为市场覆盖面最广的序列捕获产品之一。Pitzer先生介绍说：“这个新的产品， NimbleGen SeqCap EX Exome Library v3.0延续了NimbleGen一贯以来产品的高效和均一的特点，这一点得到了行业内的认可，许多文献中的实验结果也可以证明。例如在最近Nature Biotechonlogy杂志中刊登的一篇文章1，对于三种外显子组捕获产品的捕获序列进行测序后比较，在同样获得80M测序数据的情况下，NimbleGen有97%的目标序列达到10x以上 的测序深度，而其他产品只有90%。此外，NimbleGen SeqCap EX Exome Library v3.0产品将覆盖更广泛的区域，包括RefSeq, CCDS Vega以及Ensemble Database中的外显子相关区域。”与此同时，研究人员仍然可以选择NimbleGen SeqCap EX Exome Library v2.0产品，它仍将是针对RefSeq数据库的外显子序列最为经济有效的测序捕获工具。而两项新产品的相关数据信息，将在最近在加拿大蒙特利尔举办的美国人类基因学年会中发布，敬请留意后续报道。文中所涉及的文献(1) Clark et al., Performance comparison of exome DNA sequencing technologiesNature Biotechnology Published online 25 September 2011 doi:1038/nbt.1975英文原文如下：Roche NimbleGen Announces New Pre-capture Multiplexing for Target Enrichment Technology in SequencingWith the decreasing cost and increasing throughput of sequencing, researchers require a high-performance, cost-effective sample preparation pipeline for targeted sequencing. To enable researchers to more readily match targeted sequencing sample preparation throughput to the ever increasing throughput of next-generation sequencing, Roche NimbleGen (SIX: RO, ROG; OTCQX: RHHBY) announces the imminent launch of a pre-capture multiplex target enrichment protocol. This new pre-capture multiplex protocol enables multiple DNA samples to be barcoded and captured in a single SeqCap EZ Library reaction for exome or custom capture experiments.“We are extremely excited to provide researchers with a high performance, cost-effective pre-capture multiplex protocol that should allow researchers to increase the size of their studies, and thus, the statistical relevance,” stated Frank Pitzer, CEO of Roche NimbleGen.The pre-capture multiplex protocolwill be launched for an additional, more comprehensive Exome capture product. This new product will employ the same high-density probe technology that ensures high capture efficiency in all of its existing SeqCap EZ products. However, the new Exome product will target 64Mb of coding exons and miRNAs, providing researchers with an efficient target enrichment product with the most comprehensive coverage of coding regions.“The new extension of our target enrichment portfolio, NimbleGen SeqCap EZ Exome Library v3.0, will provide researchers with the same industry-renown performance and uniformity that researchers worldwide have proven in numerous recent publications. In one recent study in Nature Biotechnology1, with 80M reads, 97% of the target bases are covered by more than 10-fold using NimbleGen SeqCap EZ where only 90% of the target bases are covered by competitive technologies. Additionally, SeqCap EZ Exome Library v3.0 will target the most comprehensive collection of exons in the market as defined by the RefSeq, CCDS, Vega, and Ensembl databases,” Pitzer noted. Roche NimbleGen will continue to offer the high-performance SeqCap EZ Exome v2.0 product, as an efficient tool for researchers who want to generate extremely cost-effective sequencing data for RefSeq exons.Roche plans to release further information of both the pre-capture multiplexing protocol and the NimbleGen SeqCap EZ Exome v3.0 at the American Society of Human Genetics (ASHG) annual meeting (for more information visit Roche at ASHG booth number 502) next week in Montreal, Canada.For more information about Roche