Utilization of Benchtop Next Generation Sequencing Platforms Ion Torrent PGM and MiSeq in Noninvasive Prenatal Testing for Chromosome 21 Trisomy and Testing of Impact of In Silico and Physical Size Selection on Its Analytical Performance.

scientific article published on 15 December 2015

Utilization of Benchtop Next Generation Sequencing Platforms Ion Torrent PGM and MiSeq in Noninvasive Prenatal Testing for Chromosome 21 Trisomy and Testing of Impact of In Silico and Physical Size Selection on Its Analytical Performance. is …
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scholarly articleQ13442814

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P819ADS bibcode2015PLoSO..1044811M
P356DOI10.1371/JOURNAL.PONE.0144811
P932PMC publication ID4692262
P698PubMed publication ID26669558
P5875ResearchGate publication ID287151557

P50authorGabriela RepiskáQ84860959
Frantisek DurisQ59685322
P2093author name stringMaria Gerykova Bujalkova
Gabriel Minarik
Balint Nagy
Katarina Soltys
Tomas Szemes
Jaroslav Budis
Michaela Hyblova
Orsolya Biro
Emilia Nagyova
Barbora Vlkova-Izrael
Rastislav Sysak
P2860cites workNoninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal bloodQ24657306
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Prenatal Diagnosis of Fetal RhD Status by Molecular Analysis of Maternal PlasmaQ28314918
Trimmomatic: a flexible trimmer for Illumina sequence dataQ29547278
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative studyQ30414408
Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencingQ33665399
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation studyQ34029044
Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencingQ34256640
RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidyQ34285347
Evaluation and optimisation of preparative semi-automated electrophoresis systems for Illumina library preparationQ34311393
The feasibility study of non-invasive fetal trisomy 18 and 21 detection with semiconductor sequencing platformQ34374066
Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis.Q34385131
Chromosome-selective sequencing of maternal plasma cell–free DNA for first-trimester detection of trisomy 21 and trisomy 18Q61847821
Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester populationQ61847837
Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical settingQ83395075
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity studyQ34482155
Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidiesQ34496747
Feasibility study of semiconductor sequencing for noninvasive prenatal detection of fetal aneuploidyQ34567793
Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal bloodQ44645735
Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing.Q46892061
Quantification of fetal and total circulatory DNA in maternal plasma samples before and after size fractionation by agarose gel electrophoresisQ47312356
Size separation of circulatory DNA in maternal plasma permits ready detection of fetal DNA polymorphismsQ47423342
Noninvasive prenatal detection of chromosomal aneuploidies using different next generation sequencing strategies and algorithmsQ47785370
Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X.Q51163080
Comparison of the performance of Ion Torrent chips in noninvasive prenatal trisomy detection.Q51514162
Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the FetusQ56937251
Presence of fetal DNA in maternal plasma and serumQ57075132
Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cellsQ57079533
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue12
P407language of work or nameEnglishQ1860
P921main subjectin silicoQ192572
P304page(s)e0144811
P577publication date2015-12-15
P1433published inPLOS OneQ564954
P1476titleUtilization of Benchtop Next Generation Sequencing Platforms Ion Torrent PGM and MiSeq in Noninvasive Prenatal Testing for Chromosome 21 Trisomy and Testing of Impact of In Silico and Physical Size Selection on Its Analytical Performance
P478volume10

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cites work (P2860)
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Q92128109Adaptable Model Parameters in Non-Invasive Prenatal Testing Lead to More Stable Predictions
Q92642536Combination of Fetal Fraction Estimators Based on Fragment Lengths and Fragment Counts in Non-Invasive Prenatal Testing
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Q58602903Enhanced detection of circulating tumor DNA by fragment size analysis
Q47618331Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.
Q89994996Identification of Structural Variation from NGS-Based Non-Invasive Prenatal Testing
Q47177655In silico size selection is effective in reducing false positive NIPS cases of monosomy X that are due to maternal mosaic monosomy X.
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Q64983063Recent trends in prenatal genetic screening and testing.
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Q90461658Result of Prospective Validation of the Trisomy Test® for the Detection of Chromosomal Trisomies
Q91790685Sequencing Shorter cfDNA Fragments Decreases the False Negative Rate of Non-invasive Prenatal Testing

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