@article{06115dc9753a472581f124ad66062145,
title = "FAST-SeqS: A simple and efficient method for the detection of aneuploidy by massively parallel sequencing",
abstract = "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.",
author = "Isaac Kinde and Nickolas Papadopoulos and Kinzler, {Kenneth W.} and Bert Vogelstein",
note = "Funding Information: The authors declare the following competing interests. This study was partially funded by a UNCF-Merck Graduate Fellowship (to I.K.). N.P., K.W.K, and B.V. are co-founders of Inostics and Personal Genome Diagnostics and are members of their Scientific Advisory Boards. N.P., K.W.K, and B.V. own Inostics and Personal Genome Diagnostics stock, which is subject to certain restrictions under The Johns Hopkins University policy. I.K., N.P., K.W.K, and B.V. have submitted a patent application entitled “Prenatal Aneuploidy Testing through Compressed Genome Sequencing of Maternal Plasma” covering the work presented in this manuscript. The terms of these arrangements are managed in accordance with University conflict-of-interest policies. There are no further patents, products in development or marketed products to declare. This does not alter the authors{\textquoteright} adherence to all the PLoS ONE policies on sharing data and materials, as detailed online in the guide for authors. ",
year = "2012",
month = jul,
day = "18",
doi = "10.1371/journal.pone.0041162",
language = "English (US)",
volume = "7",
journal = "PloS one",
issn = "1932-6203",
publisher = "Public Library of Science",
number = "7",
}