Search Results - "Deciu, Cosmin"
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Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA
Published in American journal of obstetrics and gynecology (01-10-2014)“…Objective The objective of this study was to validate the clinical performance of massively parallel genomic sequencing of cell-free deoxyribonucleic acid…”
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Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting
Published in American journal of obstetrics and gynecology (01-03-2011)“…Objective We sought to evaluate a multiplexed massively parallel shotgun sequencing assay for noninvasive trisomy 21 detection using circulating cell-free…”
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Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma
Published in Clinical chemistry (Baltimore, Md.) (01-04-2015)“…The development of sequencing-based noninvasive prenatal testing (NIPT) has been largely focused on whole-chromosome aneuploidies (chromosomes 13, 18, 21, X,…”
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Determination of fetal DNA fraction from the plasma of pregnant women using sequence read counts
Published in Prenatal diagnosis (01-08-2015)“…Objective This study introduces a novel method, referred to as SeqFF, for estimating the fetal DNA fraction in the plasma of pregnant women and to infer the…”
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DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study
Published in Genetics in medicine (01-11-2011)“…Purpose: Prenatal screening for Down syndrome has improved, but the number of resulting invasive diagnostic procedures remains problematic. Measurement of…”
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Detection of Microdeletion 22q11.2 in a Fetus by Next-Generation Sequencing of Maternal Plasma
Published in Clinical chemistry (Baltimore, Md.) (01-07-2012)“…Efforts have been undertaken recently to assess the fetal genome through analysis of circulating cell-free (ccf) fetal DNA obtained from maternal plasma…”
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DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study
Published in Genetics in medicine (01-03-2012)“…Purpose: To determine whether maternal plasma cell–free DNA sequencing can effectively identify trisomy 18 and 13. Methods: Sixty-two pregnancies with trisomy…”
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Non-invasive prenatal chromosomal aneuploidy testing--clinical experience: 100,000 clinical samples
Published in PloS one (07-10-2014)“…As the first laboratory to offer massively parallel sequencing-based noninvasive prenatal testing (NIPT) for fetal aneuploidies, Sequenom Laboratories has been…”
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Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma
Published in Prenatal diagnosis (01-06-2013)“…ABSTRACT Objective Whole‐genome sequencing of circulating cell free (ccf) DNA from maternal plasma has enabled noninvasive prenatal testing for common…”
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DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations
Published in Prenatal diagnosis (01-08-2012)“…ABSTRACT Objective Studies on prenatal testing for Down syndrome (trisomy 21), trisomy 18, and trisomy 13 by massively parallel shotgun sequencing (MPSS) of…”
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A genomic analysis of the archaeal system Ignicoccus hospitalis-Nanoarchaeum equitans
Published in Genome biology (10-11-2008)“…The relationship between the hyperthermophiles Ignicoccus hospitalis and Nanoarchaeum equitans is the only known example of a specific association between two…”
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High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma
Published in PloS one (06-03-2013)“…Circulating cell-free (ccf) fetal DNA comprises 3-20% of all the cell-free DNA present in maternal plasma. Numerous research and clinical studies have…”
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Analysis of Quantitative Proteomic Data Generated via Multidimensional Protein Identification Technology
Published in Analytical chemistry (Washington) (01-04-2002)“…We describe the analysis of quantitative proteomic samples via multidimensional protein identification technology (MudPIT). Ratio amounts of the soluble…”
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P761: Calculating maternal polygenic risk scores from prenatal screening by cell-free DNA data
Published in Genetics in Medicine Open (2024)Get full text
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Proteomic Survey of Metabolic Pathways in Rice
Published in Proceedings of the National Academy of Sciences - PNAS (03-09-2002)“…A systematic proteomic analysis of rice (Oryza sativa) leaf, root, and seed tissue using two independent technologies, two-dimensional gel electrophoresis…”
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Clinical validation of a genetic model to estimate the risk of developing choroidal neovascular age-related macular degeneration
Published in Human genomics (01-07-2011)“…Predictive tests for estimating the risk of developing late-stage neovascular age-related macular degeneration (AMD) are subject to unique challenges. AMD…”
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Performance of a Paired-End Sequencing-Based Noninvasive Prenatal Screening Test in the Detection of Genome-Wide Fetal Chromosomal Anomalies
Published in Clinical chemistry (Baltimore, Md.) (01-09-2021)“…Noninvasive prenatal tests (NIPTs) detect fetal chromosomal anomalies with high clinical sensitivity and specificity. We examined the performance of a…”
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Whole genome bisulfite sequencing of cell-free DNA and its cellular contributors uncovers placenta hypomethylated domains
Published in Genome Biology (15-04-2015)“…Circulating cell-free fetal DNA has enabled non-invasive prenatal fetal aneuploidy testing without direct discrimination of the maternal and fetal DNA. Testing…”
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Factors affecting levels of circulating cell-free fetal DNA in maternal plasma and their implications for noninvasive prenatal testing
Published in Prenatal diagnosis (01-08-2015)“…What's already known about this topic? Sufficient fetal‐to‐total DNA fraction (‘fetal fraction’) of a maternal plasma sample is required for accurate…”
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Selective Enrichment of Genomic Loci for the Noninvasive Detection of Fetal Aneuploidies [285]
Published in Obstetrics and gynecology (New York. 1953) (01-05-2015)Get full text
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