Lopez-Doriga Adriana, Feliubadaló Lídia, Menéndez Mireia, Lopez-Doriga Sergio, Morón-Duran Francisco D, del Valle Jesús, Tornero Eva, Montes Eva, Cuesta Raquel, Campos Olga, Gómez Carolina, Pineda Marta, González Sara, Moreno Victor, Capellá Gabriel, Lázaro Conxi
Hum Mutat. 2014 Mar;35(3):271-7. doi: 10.1002/humu.22484.
Next-generation sequencing (NGS) has revolutionized genomic research and is set to have a major impact on genetic diagnostics thanks to the advent of benchtop sequencers and flexible kits for targeted libraries. Among the main hurdles in NGS are the difficulty of performing bioinformatic analysis of the huge volume of data generated and the high number of false positive calls that could be obtained, depending on the NGS technology and the analysis pipeline. Here, we present the development of a free and user-friendly Web data analysis tool that detects and filters sequence variants, provides coverage information, and allows the user to customize some basic parameters. The tool has been developed to provide accurate genetic analysis of targeted sequencing of common high-risk hereditary cancer genes using amplicon libraries run in a GS Junior System. The Web resource is linked to our own mutation database, to assist in the clinical classification of identified variants. We believe that this tool will greatly facilitate the use of the NGS approach in routine laboratories.
下一代测序（NGS）彻底改变了基因组研究，并且由于台式测序仪和用于靶向文库的灵活试剂盒的出现，有望对基因诊断产生重大影响。NGS的主要障碍包括对所产生的大量数据进行生物信息学分析的困难，以及根据NGS技术和分析流程可能获得的大量假阳性结果。在此，我们展示了一种免费且用户友好的网络数据分析工具的开发，该工具可检测和筛选序列变异，提供覆盖信息，并允许用户自定义一些基本参数。该工具旨在对使用在GS Junior系统中运行的扩增子文库对常见高危遗传性癌症基因进行靶向测序进行准确的基因分析。该网络资源与我们自己的突变数据库相链接，以协助对已识别变异进行临床分类。我们相信该工具将极大地促进NGS方法在常规实验室中的应用。
