High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma

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High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma is …
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scholarly articleQ13442814

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P819ADS bibcode2013PLoSO...857381J
P356DOI10.1371/JOURNAL.PONE.0057381
P932PMC publication ID3590217
P698PubMed publication ID23483908
P5875ResearchGate publication ID236040209

P2093author name stringTim Lu
Dirk van den Boom
Mathias Ehrich
Paul Oeth
Amin R Mazloom
Cosmin Deciu
Glenn E Palomaki
Graham McLennan
Jacob A Canick
John Tynan
Roger C Tim
Sung K Kim
Taylor J Jensen
Tricia Zwiefelhofer
Željko Džakula
Zhanyang Zhu
P2860cites workA new non-invasive prenatal diagnosis of Down syndrome through epigenetic markers and real-time qPCR.Q51346655
Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18.Q51349861
Maternal plasma DNA analysis with massively parallel sequencing by ligation for noninvasive prenatal diagnosis of trisomy 21.Q53063252
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
Chromosome-selective sequencing of maternal plasma cell–free DNA for first-trimester detection of trisomy 21 and trisomy 18Q61847821
Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical settingQ83395075
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal bloodQ24657306
Fast gapped-read alignment with Bowtie 2Q27860699
Free R value: a novel statistical quantity for assessing the accuracy of crystal structuresQ27860894
Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencingQ28742844
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative studyQ30414408
Quantification of Fetal DNA by Use of Methylation-Based DNA DiscriminationQ30987480
Personalized copy number and segmental duplication maps using next-generation sequencing.Q33498358
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation studyQ34029044
Fast computation and applications of genome mappabilityQ34140534
Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21.Q34168875
Differential DNA methylation as a tool for noninvasive prenatal diagnosis (NIPD) of X chromosome aneuploidiesQ34239768
Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis.Q34385131
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity studyQ34482155
Noninvasive prenatal diagnosis of a fetal microdeletion syndromeQ35020502
Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomyQ36406163
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasmaQ37010246
Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18.Q40028555
Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasmaQ44554684
DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestationsQ47764889
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue3
P407language of work or nameEnglishQ1860
P304page(s)e57381
P577publication date2013-03-06
P1433published inPLOS OneQ564954
P1476titleHigh-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma
P478volume8

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cites work (P2860)
Q92498648A new era in aneuploidy screening: cfDNA testing in >30,000 multifetal gestations: Experience at one clinical laboratory
Q35552815Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis
Q36173927Analysis of cell-free fetal DNA in maternal blood for detection of trisomy 21, 18 and 13 in a general pregnant population and in a high risk population - a systematic review and meta-analysis
Q31011773Application of risk score analysis to low-coverage whole genome sequencing data for the noninvasive detection of trisomy 21, trisomy 18, and trisomy 13.
Q37734063Attitude of Reproductive Healthcare Providers to Prenatal Diagnosis in a Low Resource Nigerian Setting.
Q59795751Autoimmune disorders but not heparin are associated with cell-free fetal DNA test failure
Q46934240Cell-free fetal DNA in maternal circulation after chorionic villous sampling
Q87919240Cell-free fetal DNA versus maternal serum screening for trisomy 21 in pregnant women with and without assisted reproduction technology: a prospective interventional study
Q37279297Clinical outcome of subchromosomal events detected by whole-genome noninvasive prenatal testing
Q44594608Comment on "Clinical application of massively parallel sequencing-based prenatal non-invasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors".
Q36454528Detection of complex deletions in chromosomes 13 and 21 in a fetus by noninvasive prenatal testing
Q51025463Determination of fetal DNA fraction from the plasma of pregnant women using sequence read counts.
Q37722183Diagnosis for choroideremia in a large Chinese pedigree by next‑generation sequencing (NGS) and non‑invasive prenatal testing (NIPT).
Q45246040Evaluation of the impact of density gradient centrifugation on fetal cell loss during enrichment from maternal peripheral blood
Q38860845Expanding non-invasive prenatal testing beyond chromosomes 21, 18, 13, X and Y.
Q91695814Factors affecting cell-free DNA fetal fraction: statistical analysis of 13,661 maternal plasmas for non-invasive prenatal screening
Q39375461Genome-wide cfDNA screening: clinical laboratory experience with the first 10,000 cases
Q47618331Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.
Q35665317High-resolution characterization of sequence signatures due to non-random cleavage of cell-free DNA.
Q35667159Impact of Cell-Free Fetal DNA Screening on Patients' Choice of Invasive Procedures after a Positive California Prenatal Screen Result
Q37412801Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory
Q38262952Implementation of whole genome massively parallel sequencing for noninvasive prenatal testing in laboratories
Q36293841Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS)
Q37529449Investigating and correcting plasma DNA sequencing coverage bias to enhance aneuploidy discovery
Q90474937Massively parallel sequencing of cell-free DNA in plasma for detecting gynaecological tumour-associated copy number alteration
Q43524466Maternal plasma DNA testing for aneuploidy in pregnancies achieved by assisted reproductive technologies
Q36335133Non-Invasive Screening Tools for Down's Syndrome: A Review
Q34301776Non-invasive prenatal chromosomal aneuploidy testing--clinical experience: 100,000 clinical samples
Q36895493Non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage
Q37745036Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage
Q46170290Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma
Q38895114Noninvasive prenatal screening at low fetal fraction: comparing whole-genome sequencing and single-nucleotide polymorphism methods.
Q37043652Prenatal diagnosis of common fetal aneuploidies: Scenario in India
Q48180522Response to "Noninvasive prenatal screening at low fetal fraction: comparing whole-genome sequencing and single-nucleotide polymorphism methods".
Q38661271Systematic review and meta-analysis of non-invasive prenatal DNA testing for trisomy 21: implications for implementation in China
Q52659515Using massively parallel shotgun sequencing of maternal plasmatic cell-free DNA for cytomegalovirus DNA detection during pregnancy: a proof of concept study.
Q35595108Whole genome bisulfite sequencing of cell-free DNA and its cellular contributors uncovers placenta hypomethylated domains

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