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

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 laborio...

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Detalles Bibliográficos
Autores principales: Kinde, Isaac, Papadopoulos, Nickolas, Kinzler, Kenneth W., Vogelstein, Bert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3399813/
https://www.ncbi.nlm.nih.gov/pubmed/22815955
http://dx.doi.org/10.1371/journal.pone.0041162
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author Kinde, Isaac
Papadopoulos, Nickolas
Kinzler, Kenneth W.
Vogelstein, Bert
author_facet Kinde, Isaac
Papadopoulos, Nickolas
Kinzler, Kenneth W.
Vogelstein, Bert
author_sort Kinde, Isaac
collection PubMed
description 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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spelling pubmed-33998132012-07-19 FAST-SeqS: A Simple and Efficient Method for the Detection of Aneuploidy by Massively Parallel Sequencing Kinde, Isaac Papadopoulos, Nickolas Kinzler, Kenneth W. Vogelstein, Bert PLoS One Research Article 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. Public Library of Science 2012-07-18 /pmc/articles/PMC3399813/ /pubmed/22815955 http://dx.doi.org/10.1371/journal.pone.0041162 Text en Kinde et al. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Kinde, Isaac
Papadopoulos, Nickolas
Kinzler, Kenneth W.
Vogelstein, Bert
FAST-SeqS: A Simple and Efficient Method for the Detection of Aneuploidy by Massively Parallel Sequencing
title FAST-SeqS: A Simple and Efficient Method for the Detection of Aneuploidy by Massively Parallel Sequencing
title_full FAST-SeqS: A Simple and Efficient Method for the Detection of Aneuploidy by Massively Parallel Sequencing
title_fullStr FAST-SeqS: A Simple and Efficient Method for the Detection of Aneuploidy by Massively Parallel Sequencing
title_full_unstemmed FAST-SeqS: A Simple and Efficient Method for the Detection of Aneuploidy by Massively Parallel Sequencing
title_short FAST-SeqS: A Simple and Efficient Method for the Detection of Aneuploidy by Massively Parallel Sequencing
title_sort fast-seqs: a simple and efficient method for the detection of aneuploidy by massively parallel sequencing
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3399813/
https://www.ncbi.nlm.nih.gov/pubmed/22815955
http://dx.doi.org/10.1371/journal.pone.0041162
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