HapEdit: an accuracy assessment viewer for haplotype assembly using massively parallel DNA-sequencing technologies
文献类型：期刊论文
| 作者 | Kim, Jong Hyun2,3; Kim, Woo-Cheol1; Li, Lei M.4,5 ; Park, Sanghyun1
|
| 刊名 | NUCLEIC ACIDS RESEARCH
 |
| 出版日期 | 2011-07-01 |
| 卷号 | 39页码:W557-W561 |
| ISSN号 | 0305-1048 |
| DOI | 10.1093/nar/gkr354 |
| 英文摘要 | The massively parallel sequencing technologies have recently flourished and dramatically cut the cost to sequence personal human genomes. Haplotype assembly from personal genomes sequenced using the massively parallel sequencing technologies is becoming a cost-effective and promising tool for human disease study. Computational assembly of haplotypes has been proved to be very accurate, but obviously contains errors. Here we present a tool, HapEdit, to assess the accuracy of assembled haplotypes and edit them manually. Using this tool, a user can break erroneous haplotype segments into smaller segments, or concatenate haplotype segments if the concatenated haplotype segments are sufficiently supported. A user can also edit bases with low-quality scores. HapEdit displays haplotype assemblies so that a user can easily navigate and pinpoint a region of interest. As inputs, HapEdit currently takes reads from the Polonator, Illumina, SOLiD, 454 and Sanger sequencing technologies. |
| 资助项目 | National Research Foundation of Korea[2009-0083311] ; National Research Foundation of Korea[2011-0004382] ; National Institutes of Health, USA[HG002790] |
| WOS研究方向 | Biochemistry & Molecular Biology |
| 语种 | 英语 |
| WOS记录号 | WOS:000292325300091 |
| 出版者 | OXFORD UNIV PRESS |
| 源URL | [http://ir.amss.ac.cn/handle/2S8OKBNM/11674]  |
| 专题 | 系统科学研究所 |
| 通讯作者 | Park, Sanghyun |
| 作者单位 | 1.Yonsei Univ, Dept Comp Sci, Seoul 120749, South Korea 2.Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA 3.Broad Inst MIT & Harvard, Cambridge, MA 02142 USA 4.Univ So Calif, Mol & Computat Biol Program, Dept Biol Sci, Los Angeles, CA 90089 USA 5.Chinese Acad Sci, Inst Syst Sci, Acad Math & Syst Sci, Beijing 100190, Peoples R China |
| 推荐引用方式 GB/T 7714 | Kim, Jong Hyun,Kim, Woo-Cheol,Li, Lei M.,et al. HapEdit: an accuracy assessment viewer for haplotype assembly using massively parallel DNA-sequencing technologies[J]. NUCLEIC ACIDS RESEARCH,2011,39:W557-W561. |
| APA | Kim, Jong Hyun,Kim, Woo-Cheol,Li, Lei M.,&Park, Sanghyun.(2011).HapEdit: an accuracy assessment viewer for haplotype assembly using massively parallel DNA-sequencing technologies.NUCLEIC ACIDS RESEARCH,39,W557-W561. |
| MLA | Kim, Jong Hyun,et al."HapEdit: an accuracy assessment viewer for haplotype assembly using massively parallel DNA-sequencing technologies".NUCLEIC ACIDS RESEARCH 39(2011):W557-W561. |
入库方式： OAI收割
来源：数学与系统科学研究院
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