Detailed simulation of cancer exome sequencing data reveals differences and common limitations of variant callers
作者: Ariane L. HofmannJonas BehrJochen SingerJack KuipersChristian BeiselPeter SchramlHolger MochNiko Beerenwinkel
作者单位: 1ETH Zurich, Mattenstr
2Mattenstr
3University Hospital Zurich
刊名: BMC Bioinformatics, 2017, Vol.18 (1)
来源数据库: Springer Journal
DOI: 10.1186/s12859-016-1417-7
关键词: SNVVariant callingCancer genomicsExome sequencingVariant caller integration
英文摘要: Next-generation sequencing of matched tumor and normal biopsy pairs has become a technology of paramount importance for precision cancer treatment. Sequencing costs have dropped tremendously, allowing the sequencing of the whole exome of tumors for just a fraction of the total treatment costs. However, clinicians and scientists cannot take full advantage of the generated data because the accuracy of analysis pipelines is limited. This particularly concerns the reliable identification of subclonal mutations in a cancer tissue sample with very low frequencies, which may be clinically relevant.
原始语种摘要: Next-generation sequencing of matched tumor and normal biopsy pairs has become a technology of paramount importance for precision cancer treatment. Sequencing costs have dropped tremendously, allowing the sequencing of the whole exome of tumors for just a fraction of the total treatment costs. However, clinicians and scientists cannot take full advantage of the generated data because the accuracy of analysis pipelines is limited. This particularly concerns the reliable identification of subclonal mutations in a cancer tissue sample with very low frequencies, which may be clinically relevant.
全文获取路径: Springer  (合作)
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来源刊物:
影响因子:3.024 (2012)

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关键词翻译
关键词翻译
  • sequencing 排序
  • treatment 处理
  • integration 集成
  • caller 呼叫者
  • dropped 降下
  • limitations 局限性
  • tremendously 惊人地
  • costs 费用
  • importance 重要性
  • common 普通