Consensus Rules in Variant Detection from Next-Generation Sequencing Data

	Consensus Rules in Variant Detection from Next-Generation Sequencing Data
	Jia, PL; Li, F; Xia, JF; Chen, HQ; Ji, HB; Pao, W; Zhao, ZM
刊名	PLOS ONE
	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
内容类型	期刊论文
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.