Consensus Rules in Variant Detection from Next-Generation Sequencing Data
文献类型：期刊论文
| 作者 | Jia, PL; Li, F; Xia, JF; Chen, HQ; Ji, HB; Pao, W; Zhao, ZM |
| 刊名 | PLOS ONE
 |
| 出版日期 | 2012 |
| 卷号 | 7期号:6页码:e38470-e38470 |
| 通讯作者 | Jia, PL (reprint author), Vanderbilt Univ, Sch Med, Dept Biomed Informat, Nashville, TN 37212 USA.,zhongming.zhao@vanderbilt.edu |
| 英文摘要 | A critical step in detecting variants from next-generation sequencing data is post hoc filtering of putative variants called or predicted by computational tools. Here, we highlight four critical parameters that could enhance the accuracy of called single nucleotide variants and insertions/deletions: quality and deepness, refinement and improvement of initial mapping, allele/strand balance, and examination of spurious genes. Use of these sequence features appropriately in variant filtering could greatly improve validation rates, thereby saving time and costs in next-generation sequencing projects. |
| 学科主题 | Science & Technology - Other Topics |
| 类目[WOS] | Multidisciplinary Sciences |
| 关键词[WOS] | MASSIVELY-PARALLEL DNA ; HUMAN GENOME ; EXOME ; MUTATIONS ; CARCINOMA ; ALIGNMENT ; DISCOVERY ; LEUKEMIA |
| 收录类别 | SCI |
| 语种 | 英语 |
| WOS记录号 | WOS:000305336800027 |
| 版本 | 出版稿 |
| 源URL | [http://202.127.25.143/handle/331003/605]  |
| 专题 | 上海生化细胞研究所_上海生科院生化细胞研究所 |
| 推荐引用方式 GB/T 7714 | Jia, PL,Li, F,Xia, JF,et al. Consensus Rules in Variant Detection from Next-Generation Sequencing Data[J]. PLOS ONE,2012,7(6):e38470-e38470. |
| APA | Jia, PL.,Li, F.,Xia, JF.,Chen, HQ.,Ji, HB.,...&Zhao, ZM.(2012).Consensus Rules in Variant Detection from Next-Generation Sequencing Data.PLOS ONE,7(6),e38470-e38470. |
| MLA | Jia, PL,et al."Consensus Rules in Variant Detection from Next-Generation Sequencing Data".PLOS ONE 7.6(2012):e38470-e38470. |
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