| 引用本文: | 李文杰,孙之荣.基于第二代测序数据识别肿瘤基因突变的工具比较[J].生物信息学,2014,12(3):167-170. |
| LI Wenjie,SUN Zhirong.Comparison of somatic mutation calling tools for second generation sequencing[J].Chinese Journal of Bioinformatics,2014,12(3):167-170. |
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| 摘要: |
| 使用第二代测序数据来发现癌细胞中的基因组突变,一直是很重要的科学应用问题。此研究使用一个癌症病人的大量数据,评估了甄别基因组突变的几个现有工具。经过比较各工具的方法和正确率,本文发现各自都有自己的优点和缺点。针对这些优缺点,本文提供一些建议,让工具使用者能更好地选择合适的工具。 |
| 关键词: 癌症 基因组突变 第二代测序 基因组测序 |
| DOI：10.3969/j.issn.1672-5565.2014.03.03 |
| 分类号:Q61 |
| 基金项目: |
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| Comparison of somatic mutation calling tools for second generation sequencing |
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LI Wenjie, SUN Zhirong
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(Ministry of Education Key Laboratory of Bioinformatics, School of Life Sciences, Tsinghua University, Beijing 100084,China)
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| Abstract: |
| It′s always a scientific question to identify genomic mutations in cancer cells using next generation sequencing data. This study used the high-throughput data from a cancer patient to estimate several tools that identify somatic mutations. By comparing their methods and the validation rates, we found both their advantages and short comings. Finally, we provide some advice to allow user to choose the suitable tool. |
| Key words: Cancer Genomic mutation Next generation sequencing Genomic sequencing |
