FAST-SeqS: A Simple and Efficient Method for the Detection of Aneuploidy by Massively Parallel Sequencing

被引：56

作者：

Kinde, Isaac ^{[1
]}

Papadopoulos, Nickolas

Kinzler, Kenneth W.

Vogelstein, Bert

机构：

[1] Ludwig Ctr Canc Genet & Therapeut, Baltimore, MD USA

来源：

PLOS ONE | 2012年 / 7卷 / 07期

基金：

美国国家卫生研究院;

关键词：

GENOME BROWSER DATABASE; MATERNAL AGE; FETAL DNA; DIAGNOSIS; ALIGNMENT; IMPACT;

D O I：

10.1371/journal.pone.0041162

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

070301 [无机化学]; 070403 [天体物理学]; 070507 [自然资源与国土空间规划学]; 090105 [作物生产系统与生态工程];

摘要：

Massively parallel sequencing of cell-free, maternal plasma DNA was recently demonstrated to be a safe and effective screening method for fetal chromosomal aneuploidies. Here, we report an improved sequencing method achieving significantly increased throughput and decreased cost by replacing laborious sequencing library preparation steps with PCR employing a single primer pair designed to amplify a discrete subset of repeated regions. Using this approach, samples containing as little as 4% trisomy 21 DNA could be readily distinguished from euploid samples.

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