Open AccessFAST-SeqS: A Simple and Efficient Method for the Detection of Aneuploidy by Massively Parallel Sequencing
Author(s) -
Isaac Kinde,
Nickolas Papadopoulos,
Kenneth W. Kinzler,
Bert Vogelstein
Publication year - 2012
Publication title -
plos one
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.99
H-Index - 332
ISSN - 1932-6203
DOI - 10.1371/journal.pone.0041162
Subject(s) - massive parallel sequencing , aneuploidy , dna sequencing , massively parallel , trisomy , computational biology , biology , primer (cosmetics) , genetics , dna , computer science , chemistry , gene , parallel computing , chromosome , organic chemistry
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.