Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Ostrovityanova str. 1, Moscow, 117997, Russian Federation.
BMC Genomics. 2022 Aug 12;23(1):582. doi: 10.1186/s12864-022-08825-w.
Exome sequencing is becoming a routine in health care, because it increases the chance of pinpointing the genetic cause of an individual patient's condition and thus making an accurate diagnosis. It is important for facilities providing genetic services to keep track of changes in the technology of exome capture in order to maximize throughput while reducing cost per sample. In this study, we focused on comparing the newly released exome probe set Agilent SureSelect Human All Exon v8 and the previous probe set v7. In preparation for higher throughput of exome sequencing using the DNBSEQ-G400, we evaluated target design, coverage statistics, and variants across these two different exome capture products. Although the target size of the v8 design has not changed much compared to the v7 design (35.24 Mb vs 35.8 Mb), the v8 probe design allows you to call more of SNVs (+ 3.06%) and indels (+ 8.49%) with the same number of raw reads per sample on the common target regions (34.84 Mb). Our results suggest that the new Agilent v8 probe set for exome sequencing yields better data quality than the current Agilent v7 set.
外显子组测序在医疗保健中变得越来越常规,因为它增加了确定个体患者病情遗传原因的机会,从而做出准确的诊断。为了最大限度地提高通量并降低每个样本的成本,提供遗传服务的机构跟踪外显子捕获技术的变化非常重要。在这项研究中,我们专注于比较新发布的 Agilent SureSelect Human All Exon v8 外显子探针集和之前的 v7 探针集。为了使用 DNBSEQ-G400 实现更高通量的外显子组测序,我们评估了这两种不同外显子捕获产品的靶标设计、覆盖统计数据和变体。尽管与 v7 设计相比,v8 设计的靶标大小变化不大(35.24 Mb 与 35.8 Mb),但 v8 探针设计允许您在相同数量的原始读取下在常见靶标区域(34.84 Mb)中调用更多的 SNVs(+3.06%)和 indels(+8.49%)。我们的结果表明,新的 Agilent v8 外显子组测序探针集产生的比当前的 Agilent v7 探针集更好的数据质量。