MutScan: fast detection and visualization of target mutations by scanning FASTQ data.
文献类型：期刊论文
| 作者 | Gu, Jia; Chen, Shifu; Huang, Tanxiao; Wen, Tiexiang; Li, Hong; Xu, Mingyan |
| 刊名 | BMC BIOINFORMATICS
 |
| 出版日期 | 2018 |
| 文献子类 | 期刊论文 |
| 英文摘要 | Background: Some types of clinical genetic tests, such as cancer testing using circulating tumor DNA (ctDNA), require sensitive detection of known targetmutations. However, conventional next-generation sequencing (NGS) data analysis pipelines typically involve different steps of filtering, which may cause miss-detection of key mutations with low frequencies. Variant validation is also indicated for key mutations detected by bioinformatics pipelines. Typically, this process can be executed using alignment visualization tools such as IGV or GenomeBrowse. However, these tools are too heavy and therefore unsuitable for validating mutations in ultra-deep sequencing data. |
| URL标识 | 查看原文 |
| 语种 | 英语 |
| 源URL | [http://ir.siat.ac.cn:8080/handle/172644/14230]  |
| 专题 | 深圳先进技术研究院_医工所 |
| 推荐引用方式 GB/T 7714 | Gu, Jia,Chen, Shifu,Huang, Tanxiao,et al. MutScan: fast detection and visualization of target mutations by scanning FASTQ data.[J]. BMC BIOINFORMATICS,2018. |
| APA | Gu, Jia,Chen, Shifu,Huang, Tanxiao,Wen, Tiexiang,Li, Hong,&Xu, Mingyan.(2018).MutScan: fast detection and visualization of target mutations by scanning FASTQ data..BMC BIOINFORMATICS. |
| MLA | Gu, Jia,et al."MutScan: fast detection and visualization of target mutations by scanning FASTQ data.".BMC BIOINFORMATICS (2018). |
入库方式： OAI收割
来源：深圳先进技术研究院
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