FAST-SeqS: A simple and efficient method for the detection of aneuploidy by massively parallel sequencing

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Article numbere41162
JournalPLoS One
Volume7
Issue number7
DOIs
StatePublished - Jul 18 2012

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High-Throughput Nucleotide Sequencing
aneuploidy
Aneuploidy
trisomics
DNA libraries
DNA
Down Syndrome
Screening
Mothers
Throughput
screening
Plasmas
Costs and Cost Analysis
sampling
Polymerase Chain Reaction
methodology
Costs
cells
high-throughput nucleotide sequencing

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

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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",
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