Performance comparison of four commercial human whole-exome capture platforms. Homo sapiens

We compared performance of four commercial human whole-exome capture platforms using two HapMap-JPT sampels (NA18943 and NA18948). The DNA samples were obtained from Coriell, where lymphoblastoid cell lines were established by Epstein-Barr virus (Human herpesvirus 4)-mediated transformation of peripheral blood mononuclear cells. Each exome captured sequencing library was produced from one of four different technologies: Roche/NimbleGen SeqCap EZ Human Exome Library v3.0, Illumina Nextera Rapid Capture Exome (v1.2), Agilent SureSelect XT Human All Exon v5 and Agilent SureSelect QXT. The captured DNA was sequenced using the Illumina HiSeq2500 platform with paired-end reads of 161bp for insert libraries according to the manufacturer instructions. The Data Access Committee of the National Bioscience Database Center (NBDC) approved that this personal genetic data were made published according to NBDC data sharing guidelines (http://humandbs.biosciencedbc.jp/).

本研究采用两例HapMap-JPT样本（NA18943与NA18948），对四款商用人类全外显子组捕获平台的性能开展对比评估。本次实验所用DNA样本均取自科里尔（Coriell）细胞库，其对应的淋巴母细胞系通过爱泼斯坦-巴尔病毒（Epstein-Barr virus，人类疱疹病毒4型）介导外周血单核细胞转化构建。本研究的四款外显子组捕获测序文库分别基于以下四种技术构建：罗氏（Roche）/尼姆基因（NimbleGen）SeqCap EZ人类全外显子组文库v3.0、Illumina Nextera Rapid Capture Exome（v1.2）、安捷伦（Agilent）SureSelect XT Human All Exon v5以及安捷伦（Agilent）SureSelect QXT。捕获得到的DNA文库按照厂商说明书要求，采用Illumina HiSeq2500平台完成测序，插入片段文库采用161bp双端读长策略。日本国立生物科学数据库中心（National Bioscience Database Center, NBDC）的数据访问委员会已批准本研究遵循NBDC数据共享指南（http://humandbs.biosciencedbc.jp/）公开此个人遗传数据。