Comparison of Mendeliome exome capture kits for use in clinical diagnostics
Comparison of Mendeliome exome capture kits for use in clinical diagnostics
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DOI：
10.1038/s41598-020-60215-y
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发表时间：
2020-02-24
影响因子：
4.6
通讯作者：
Ennis, Sarah
中科院分区：
文献类型：
--
作者：
Pengelly, Reuben J.;Ward, Daniel;Ennis, Sarah
下一代测序已经扰乱了基因测试，允许应用更大的测试范围。现在可以很容易地选择要测试的基因组的适当部分，从单个突变到全基因组测序。这一谱系中的一个产品是聚焦外显体，目标类似于已知与人类疾病有关的5000个基因。它们旨在提供一个灵活的平台，与整个外显子组测序相比，在降低测序要求的情况下，提供高诊断产量。在这里，我们对对照DNA样本进行了测序，并比较了两种试剂盒，Illumina TruSight One和Agilent SureSelect Focted Exome。对试剂盒的性能进行了综合评价。尽管安捷伦试剂盒的设计区域更大，但我们发现Illumina试剂盒在基因覆盖以及临床相关基因座覆盖方面表现更好。我们为每个试剂盒提供详尽的覆盖率统计数据，以帮助评估它们的适用性，并为对照DNA样本提供读取数据，以便为这些数据开发管道的用户进行生物信息基准测试。
Next generation sequencing has disrupted genetic testing, allowing far more scope in the tests applied. The appropriate sections of the genome to be tested can now be readily selected, from single mutations to whole-genome sequencing. One product offering within this spectrum are focused exomes, targeting similar to 5,000 genes know to be implicated in human disease. These are designed to offer a flexible platform offering high diagnostic yield with a reduction in sequencing requirement compared to whole exome sequencing. Here, we have undertaken sequencing of control DNA samples and compare two kits, the Illumina TruSight One and the Agilent SureSelect Focused Exome. Characteristics of the kits are comprehensively evaluated. Despite the larger design region of the Agilent kit, we find that the Illumina kit performs better in terms of gene coverage, as well as coverage of clinically relevant loci. We provide exhaustive coverage statistics for each kit to aid the assessment of their suitability and provide read data for control DNA samples to allow for bioinformatic benchmarking by users developing pipelines for these data.