Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
Genome Med. 2012 Jan 30;4(1):7. doi: 10.1186/gm306.
Exome sequencing analysis is a cost-effective approach for identifying variants in coding regions. However, recognizing the relevant single nucleotide variants, small insertions and deletions remains a challenge for many researchers and diagnostic laboratories typically do not have access to the bioinformatic analysis pipelines necessary for clinical application. The Atlas2 suite, recently released by Baylor Genome Center, is designed to be widely accessible, runs on desktop computers but is scalable to computational clusters, and performs comparably with other popular variant callers. Atlas2 may be an accessible alternative for data processing when a rapid solution for variant calling is required.See research article http://www.biomedcentral.com/1471-2105/13/8.
外显子组测序分析是一种经济有效的方法,可用于识别编码区域中的变异。然而,识别相关的单核苷酸变异、小插入和缺失仍然是许多研究人员面临的挑战,而且诊断实验室通常无法获得临床应用所需的生物信息学分析管道。Baylor 基因组中心最近发布的 Atlas2 套件旨在广泛普及,可在台式计算机上运行,但可扩展到计算集群,并且与其他流行的变异调用程序性能相当。当需要快速解决变异调用问题时,Atlas2 可能是一种可供选择的方法。请参阅研究文章 http://www.biomedcentral.com/1471-2105/13/8.