Performance evaluation of nipt in detection of chromosomal copy number variants using low-coverage whole-genome sequencing of plasma dna
文献类型：期刊论文
| 作者 | Liu, Hongtai1,2; Gao, Ya2; Hu, Zhiyang3; Lin, Linhua3; Yin, Xuyang2; Wang, Jun2; Chen, Dayang1,2; Chen, Fang2,4; Jiang, Hui2; Ren, Jinghui3 |
| 刊名 | Plos one
 |
| 出版日期 | 2016-07-14 |
| 卷号 | 11期号:7页码:11 |
| ISSN号 | 1932-6203 |
| DOI | 10.1371/journal.pone.0159233 |
| 通讯作者 | Wang, wei(wangw@genomics.cn) |
| 英文摘要 | Objectives the aim of this study was to assess the performance of noninvasively prenatal testing (nipt) for fetal copy number variants (cnvs) in clinical samples, using a whole-genome sequencing method. method a total of 919 archived maternal plasma samples with karyotyping/microarray results, including 33 cnvs samples and 886 normal samples from september 1, 2011 to may 31, 2013, were enrolled in this study. the samples were randomly rearranged and blindly sequenced by low-coverage (about 7m reads) whole-genome sequencing of plasma dna. fetal cnvs were detected by fetal copy-number analysis through maternal plasma sequencing (fcaps) to compare to the karyotyping/microarray results. sensitivity, specificity and were evaluated. results 33 samples with deletions/duplications ranging from 1 to 129 mb were detected with the consistent cnv size and location to karyotyping/microarray results in the study. ten false positive results and two false negative results were obtained. the sensitivity and specificity of detection deletions/duplications were 84.21% and 98.42%, respectively. conclusion whole-genome sequencing-based nipt has high performance in detecting genome-wide cnvs, in particular > 10mb cnvs using the current fcaps algorithm. it is possible to implement the current method in nipt to prenatally screening for fetal cnvs. |
| WOS关键词 | NONINVASIVE PRENATAL-DIAGNOSIS ; MICRODUPLICATION SYNDROMES ; MICRODELETION |
| WOS研究方向 | Science & Technology - Other Topics |
| WOS类目 | Multidisciplinary Sciences |
| 语种 | 英语 |
| WOS记录号 | WOS:000379579500103 |
| 出版者 | PUBLIC LIBRARY SCIENCE |
| URI标识 | http://www.irgrid.ac.cn/handle/1471x/2374752 |
| 专题 | 中国科学院大学 |
| 通讯作者 | Wang, Wei |
| 作者单位 | 1.Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R China 2.BGI Shenzhen, Shenzhen 518083, Peoples R China 3.Jinan Univ, Sch Clin Med 2, Shenzhen Peoples Hosp, Shenzhen 518020, Peoples R China 4.Univ Copenhagen, Fac Hlth & Med Sci, Dept Vet Dis Biol, Sect Mol Dis Biol, DK-2200 Copenhagen N, Denmark |
| 推荐引用方式 GB/T 7714 | Liu, Hongtai,Gao, Ya,Hu, Zhiyang,et al. Performance evaluation of nipt in detection of chromosomal copy number variants using low-coverage whole-genome sequencing of plasma dna[J]. Plos one,2016,11(7):11. |
| APA | Liu, Hongtai.,Gao, Ya.,Hu, Zhiyang.,Lin, Linhua.,Yin, Xuyang.,...&Wang, Wei.(2016).Performance evaluation of nipt in detection of chromosomal copy number variants using low-coverage whole-genome sequencing of plasma dna.Plos one,11(7),11. |
| MLA | Liu, Hongtai,et al."Performance evaluation of nipt in detection of chromosomal copy number variants using low-coverage whole-genome sequencing of plasma dna".Plos one 11.7(2016):11. |
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来源：中国科学院大学
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