BackgroundTo promote the clinical application of next-generation sequencing, it is important to obtain accurate and consistent variants of target genomic regions at low cost. Ion Proton, the latest updated semiconductor-based sequencing instrument from Life Technologies, is designed to provide investigators with an inexpensive platform for human whole exome sequencing that achieves a rapid turnaround time. However, few studies have comprehensively compared and evaluated the accuracy of variant calling between Ion Proton and Illumina sequencing platforms such as HiSeq 2000, which is the most popular sequencing platform for the human genome. The Ion Proton sequencer combined with the Ion TargetSeq™ Exome Enrichment Kit together make up TargetSeq-Proton, whereas SureSelect-Hiseq is based on the Agilent SureSelect Human All Exon v4 Kit and the HiSeq 2000 sequencer.
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机译：背景技术为了促进下一代测序的临床应用，重要的是以低成本获得靶基因组区域的准确且一致的变体。 Ion Proton是Life Technologies的最新更新的基于半导体的测序仪器，旨在为研究人员提供用于人类全外显子组测序的廉价平台，从而缩短周转时间。但是，很少有研究能够全面比较和评估离子质子和Illumina测序平台（例如HiSeq 2000）之间的变异调用的准确性，HiSeq 2000是人类基因组最流行的测序平台。离子质子测序仪与离子TargetSeq™外显子组富集试剂盒一起构成了TargetSeq-Proton，而SureSelect-Hiseq基于安捷伦SureSelect Human All Exon v4试剂盒和HiSeq 2000测序仪。
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