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首页> 外文期刊>BMC Medical Genomics >Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells
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Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells

机译：Immunoseq：通过针对性捕获和测序人类免疫细胞中活性调节区来鉴定功能相关变体

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Background The observation that the genetic variants identified in genome-wide association studies (GWAS) frequently lie in non-coding regions of the genome that contain cis- regulatory elements suggests that altered gene expression underlies the development of many complex traits. In order to efficiently make a comprehensive assessment of the impact of non-coding genetic variation in immune related diseases we emulated the whole-exome sequencing paradigm and developed a custom capture panel for the known DNase I hypersensitive site (DHS) in immune cells – “Immunoseq”. Results We performed Immunoseq in 30 healthy individuals where we had existing transcriptome data from T cells. We identified a large number of novel non-coding variants in these samples. Relying on allele specific expression measurements, we also showed that our selected capture regions are enriched for functional variants that have an impact on differential allelic gene expression. The results from a replication set with 180 samples confirmed our observations. Conclusions We show that Immunoseq is a powerful approach to detect novel rare variants in regulatory regions. We also demonstrate that these novel variants have a potential functional role in immune cells.
机译：背景技术在全基因组关联研究（GWAS）中鉴定出的遗传变异通常位于基因组的非编码区域中，该非编码区域包含顺式调控元件，这一发现表明改变的基因表达是许多复杂性状发展的基础。为了有效地评估非编码基因变异对免疫相关疾病的影响，我们模拟了全外显子组测序范例，并针对免疫细胞中已知的DNase I超敏位点（DHS）开发了定制捕获面板-“ Immunoseq”。结果我们在30名健康个体中进行了Immunoseq，他们已有来自T细胞的转录组数据。我们在这些样本中发现了大量新颖的非编码变体。依靠等位基因特异性表达测量，我们还表明我们选择的捕获区域富含对差异等位基因表达有影响的功能变异。来自具有180个样本的复制集的结果证实了我们的观察结果。结论我们表明，Immunoseq是检测监管区域新的罕见变异的有效方法。我们还证明了这些新颖的变体在免疫细胞中具有潜在的功能作用。

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