生物信息学Issue(3):167-170,4.DOI:10.3969/j.issn.1672-5565.2014.03.03
基于第二代测序数据识别肿瘤基因突变的工具比较
Comparison of somatic mutation calling tools for second generation sequencing
李文杰 1孙之荣1
作者信息
- 1. 清华大学生命科学学院,教育部生物信息学重点实验室,北京100084
- 折叠
摘要
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.关键词
癌症/基因组突变/第二代测序/基因组测序Key words
Cancer/Genomic mutation/Next generation sequencing/Genomic sequencing分类
生物科学引用本文复制引用
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,(3):167-170,4.