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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Bibliographic Details
Published in:PloS one 2012-07, Vol.7 (7), p.e41162-e41162
Main Authors: Kinde, Isaac, Papadopoulos, Nickolas, Kinzler, Kenneth W, Vogelstein, Bert
Format: Article
Language:English
Subjects:
Adult
Aneuploidy
Biology
Births
Cancer
Chromosome Aberrations
Chromosome Disorders - diagnosis
Chromosome Disorders - genetics
Chromosomes
Data analysis
Deoxyribonucleic acid
DNA
DNA - analysis
DNA Primers - genetics
DNA sequencing
Down syndrome
Families & family life
Female
Fetuses
Gene Library
Gene sequencing
Genetic disorders
Genomes
High-Throughput Nucleotide Sequencing - methods
Humans
Medical research
Methods
Multiprocessing
Pathogenesis
Plasma
Polymerase Chain Reaction - methods
Pregnancy
Pregnancy Complications - diagnosis
Pregnancy Complications - genetics
Prenatal Diagnosis - methods
Sequence Analysis, DNA
Trisomy
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Summary: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.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0041162