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Development and performance of a targeted whole exome sequencing enrichment kit for the dog (Canis Familiaris Build 3.1)

机译:针对犬的靶向全外显子组测序富集试剂盒的开发和性能(Canis Familiaris Build 3.1)

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摘要

Whole exome sequencing is a technique that aims to selectively sequence all exons of protein-coding genes. A canine whole exome sequencing enrichment kit was designed based on the latest canine reference genome (build 3.1.72). Its performance was tested by sequencing 2 exome captures, each consisting of 4 pre-capture pooled, barcoded Illumina libraries on an Illumina HiSeq 2500. At an average sequencing depth of 102x, 83 to 86% of the target regions were completely sequenced with a minimum coverage of five and 90% of the reads mapped on the target regions. Additionally, it is shown that the reproducibility within and between captures is high and that pooling four samples per capture is a valid option. Overall, we have demonstrated the strong performance of this WES enrichment kit and are confident it will be a valuable tool in future disease association studies.
机译:完整外显子组测序是一种旨在对蛋白质编码基因的所有外显子进行选择性测序的技术。基于最新的犬参考基因组(版本3.1.72)设计了犬全外显子组测序富集试剂盒。它的性能通过对2个外显子组捕获序列进行测试,每个捕获均由Illumina HiSeq 2500上的4个预捕获池化条形码条形码Illumina库组成。在平均测序深度为102x的情况下,最低限度完全测序了83%至86%的目标区域覆盖了目标区域上的5%和90%的读段。此外,结果表明,捕获内和捕获之间的重现性很高,每个捕获合并四个样本是有效的选择。总体而言,我们已经证明了这种WES富集试剂盒的强大性能,并且有信心将其作为未来疾病关联研究的宝贵工具。

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