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首页> 外文期刊>BMC Genomics >Massively-parallel sequencing of genes on a single chromosome: a comparison of solution hybrid selection and flow sorting
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Massively-parallel sequencing of genes on a single chromosome: a comparison of solution hybrid selection and flow sorting

机译：单个染色体上基因的大规模平行测序：溶液杂交选择和流分类的比较

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Background Targeted capture, combined with massively-parallel sequencing, is a powerful technique that allows investigation of specific portions of the genome for less cost than whole genome sequencing. Several methods have been developed, and improvements have resulted in commercial products targeting the human or mouse exonic regions (the exome). In some cases it is desirable to custom-target other regions of the genome, either to reduce the amount of sequence that is targeted or to capture regions that are not targeted by commercial kits. It is important to understand the advantages, limitations, and complexity of a given capture method before embarking on a targeted sequencing experiment. Results We compared two custom targeted capture methods suitable for single chromosome analysis: Solution Hybrid Selection (SHS) and Flow Sorting (FS) of single chromosomes. Both methods can capture targeted material and result in high percentages of genotype identifications across these regions: 59-92% for SHS and 70-79% for FS. FS is amenable to current structural variation detection methods, and variants were detected. Structural variation was also assessed for SHS samples with paired end sequencing, resulting in variant identification. Conclusions While both methods can effectively target genomic regions for genotype determination, several considerations make each method appropriate in different circumstances. SHS is well suited for experiments targeting smaller regions in a larger number of samples. FS is well suited when regions of interest cover large regions of a single chromosome. Although whole genome sequencing is becoming less expensive, the sequencing, data storage, and analysis costs make targeted sequencing using SHS or FS a compelling option.
机译：背景技术有针对性的捕获技术与大规模平行测序相结合，是一项功能强大的技术，与全基因组测序相比，它可以以更低的成本研究基因组的特定部分。已经开发了几种方法，并且改进已经产生了针对人或小鼠外显子区域（外显子组）的商业产品。在某些情况下，需要自定义靶向基因组的其他区域，以减少靶向序列的数量或捕获商业试剂盒未靶向的区域。在着手进行靶向测序实验之前，一定要了解给定捕获方法的优势，局限性和复杂性。结果我们比较了适用于单染色体分析的两种定制的靶向捕获方法：单染色体的溶液杂交选择（SHS）和流分选（FS）。两种方法都可以捕获目标物质，并在这些区域中获得较高百分比的基因型鉴定：SHS为59-92％，FS为70-79％。 FS适用于当前的结构变异检测方法，并且可以检测变异。还通过配对末端测序评估了SHS样品的结构变异，从而鉴定出变异。结论虽然这两种方法都可以有效地靶向基因组区域进行基因型确定，但一些考虑因素使每种方法都适用于不同的情况。 SHS非常适合针对大量样品中较小区域的实验。当感兴趣区域覆盖单个染色体的大区域时，FS非常适合。尽管全基因组测序变得越来越便宜，但测序，数据存储和分析成本使使用SHS或FS的靶向测序成为一种引人注目的选择。

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