Targeted Next-Generation Sequencing on Hirschsprung Disease: A Pilot Study Exploits DNA Pooling
文献类型：期刊论文
| 作者 | Gui, Hongsheng1,2; Bao, Jessie Yunjuan7,9; Tang, Clara Sze-Man1,2; So, Man-Ting1; Diem-Ngoc Ngo6; Anh-Quynh Tran6; Duc-Hau Bui6; Duy-Hien Pham6; Thanh-Liem Nguyen6; Tong, Amy7,8 |
| 刊名 | ANNALS OF HUMAN GENETICS
 |
| 出版日期 | 2014-09-01 |
| 卷号 | 78期号:5页码:381-387 |
| 关键词 | HSCR targeted resequencing CDS rare variant RainDance |
| 英文摘要 | To adopt an efficient approach of identifying rare variants possibly related to Hirschsprung disease (HSCR), a pilot study was set up to evaluate the performance of a newly designed protocol for next generation targeted resquencing. In total, 20 Chinese HSCR patients and 20 Chinese sex-matched individuals with no HSCR were included, for which coding sequences (CDS) of 62 genes known to be in signaling pathways relevant to enteric nervous system development were selected for capture and sequencing. Blood DNAs from eight pools of five cases or controls were enriched by PCR-based RainDance technology (RDT) and then sequenced on a 454 FLX platform. As technical validation, five patients from case Pool-3 were also independently enriched by RDT, indexed with barcode and sequenced with sufficient coverage. Assessment for CDS single nucleotide variants showed DNA pooling performed well (specificity/sensitivity at 98.4%/83.7%) at the common variant level; but relatively worse (specificity/sensitivity at 65.5%/61.3%) at the rare variant level. Further Sanger sequencing only validated five out of 12 rare damaging variants likely involved in HSCR. Hence more improvement at variant detection and sequencing technology is needed to realize the potential of DNA pooling for large-scale resequencing projects. |
| WOS标题词 | Science & Technology ; Life Sciences & Biomedicine |
| 类目[WOS] | Genetics & Heredity |
| 研究领域[WOS] | Genetics & Heredity |
| 关键词[WOS] | ASSOCIATION ; EXOME ; ENRICHMENT ; MUTATION ; RET ; STRATEGIES ; DISCOVERY ; FRAMEWORK ; VARIANTS ; GENETICS |
| 收录类别 | SCI |
| 语种 | 英语 |
| WOS记录号 | WOS:000340424200007 |
| 源URL | [http://124.16.173.210/handle/834782/1373]  |
| 专题 | 天津工业生物技术研究所_基因工程与微生物应用技术研究组 宋恢_期刊论文 |
| 作者单位 | 1.Univ Hong Kong, Dept Surg, Hong Kong, Hong Kong, Peoples R China 2.Univ Hong Kong, Dept Psychiat, Hong Kong, Hong Kong, Peoples R China 3.Univ Hong Kong, Ctr Genom Sci, Hong Kong, Hong Kong, Peoples R China 4.Univ Hong Kong, Li KaShing Fac Med, Ctr Reprod Dev & Growth, Hong Kong, Hong Kong, Peoples R China 5.Univ Hong Kong, State Key Lab Brain & Cognit Sci, Hong Kong, Hong Kong, Peoples R China 6.Natl Hosp Pediat, Dept Human Genet, Hanoi, Vietnam 7.Univ Hong Kong, Genome Res Ctr, Hong Kong, Hong Kong, Peoples R China 8.Chinese Univ Hong Kong, Fac Med, Hong Kong, Hong Kong, Peoples R China 9.Chinese Acad Sci, Tianjin Inst Ind Biotechnol, Tianjin, Peoples R China |
| 推荐引用方式 GB/T 7714 | Gui, Hongsheng,Bao, Jessie Yunjuan,Tang, Clara Sze-Man,et al. Targeted Next-Generation Sequencing on Hirschsprung Disease: A Pilot Study Exploits DNA Pooling[J]. ANNALS OF HUMAN GENETICS,2014,78(5):381-387. |
| APA | Gui, Hongsheng.,Bao, Jessie Yunjuan.,Tang, Clara Sze-Man.,So, Man-Ting.,Diem-Ngoc Ngo.,...&Garcia-Barcelo, Maria-Merce.(2014).Targeted Next-Generation Sequencing on Hirschsprung Disease: A Pilot Study Exploits DNA Pooling.ANNALS OF HUMAN GENETICS,78(5),381-387. |
| MLA | Gui, Hongsheng,et al."Targeted Next-Generation Sequencing on Hirschsprung Disease: A Pilot Study Exploits DNA Pooling".ANNALS OF HUMAN GENETICS 78.5(2014):381-387. |
入库方式： OAI收割
来源：天津工业生物技术研究所
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