...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>BMC Genomics >Variant discovery in targeted resequencing using whole genome amplified DNA
【24h】

Variant discovery in targeted resequencing using whole genome amplified DNA

机译：使用全基因组扩增的DNA进行靶向重测序的变异发现

获取原文
   

获取外文期刊封面封底 >>

       
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Background Next generation sequencing and advances in genomic enrichment technologies have enabled the discovery of the full spectrum of variants from common to rare alleles in the human population. The application of such technologies can be limited by the amount of DNA available. Whole genome amplification (WGA) can overcome such limitations. Here we investigate applicability of using WGA by comparing SNP and INDEL variant calls from a single genomic/WGA sample pair from two capture separate experiments: a 50 Mbp whole exome capture and a custom capture array of 4 Mbp region on chr12. Results Our results comparing variant calls derived from genomic and WGA DNA show that the majority of variant SNP and INDEL calls are common to both callsets, both at the site and genotype level and suggest that allele bias plays a minimal role when using WGA DNA in re-sequencing studies. Conclusions Although the results of this study are based on a limited sample size, they suggest that using WGA DNA allows the discovery of the vast majority of variants, and achieves high concordance metrics, when comparing to genomic DNA calls.
机译：背景技术下一代测序和基因组富集技术的进步使人们能够发现人类中从普通到稀有等位基因的完整变体。此类技术的应用可能会受到可用DNA数量的限制。全基因组扩增（WGA）可以克服此类限制。在这里，我们通过比较来自两个捕获独立实验的单个基因组/ WGA样本对中的SNP和INDEL变异调用，研究了使用WGA的适用性：一个50 Mbp的完整外显子组捕获和一个chr12上4 Mbp区域的定制捕获阵列。结果我们的结果比较了从基因组和WGA DNA衍生的变异调用，结果表明，大多数变异SNP和INDEL调用在位点和基因型水平上都是这两个调用集所共有的，并且表明等位基因偏倚在将WGA DNA用于遗传测序研究。结论尽管这项研究的结果是基于有限的样本量，但他们建议与基因组DNA调用相比，使用WGA DNA可以发现绝大多数变体，并实现高度一致性指标。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号