Fast Temperature-Gradient COLD PCR for the enrichment of the paternally inherited SNPs in cell free fetal DNA; an application to non-invasive prenatal diagnosis of β-thalassaemia

scientific article published on 25 July 2018

Fast Temperature-Gradient COLD PCR for the enrichment of the paternally inherited SNPs in cell free fetal DNA; an application to non-invasive prenatal diagnosis of β-thalassaemia is …
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scholarly articleQ13442814

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P356DOI10.1371/JOURNAL.PONE.0200348
P932PMC publication ID6059429
P698PubMed publication ID30044883

P50authorThessalia PapasavvaQ90467891
P2093author name stringG Mike Makrigiorgos
Marina Kleanthous
Stefania Byrou
Ioannis Kallikas
Agathoklis Christofides
P2860cites workAmniocentesis and chorionic villus sampling for prenatal diagnosisQ24247990
Two-round coamplification at lower denaturation temperature-PCR (COLD-PCR)-based sanger sequencing identifies a novel spectrum of low-level mutations in lung adenocarcinomaQ24649847
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DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative studyQ30414408
Clinical application of noninvasive prenatal testing for the detection of trisomies 21, 18, and 13: a hospital experienceQ88019853
Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasmaQ33360224
Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasmaQ33682367
Fetal RHD genotype detection from circulating cell-free fetal DNA in maternal plasma in non-sensitized RhD negative womenQ33917070
COLD-PCR enrichment of rare cancer mutations prior to targeted amplicon resequencingQ34109720
Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis.Q34385131
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Replacing PCR with COLD-PCR enriches variant DNA sequences and redefines the sensitivity of genetic testingQ34769683
COLD-PCR: improving the sensitivity of molecular diagnostics assaysQ35036964
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Non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosageQ36895493
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Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasmaQ37000915
Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.Q37316945
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Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasiaQ40350792
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COLD-PCR and microarray: two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma.Q52883296
Thalassaemia: the long road from bedside to genome.Q53334769
Non-invasive prenatal diagnostic testing for β-thalassaemia using cell-free fetal DNA and next generation sequencing.Q54184929
Rapid and sensitive detection of KRAS mutation after fast-COLD-PCR enrichment and high-resolution melting analysis.Q54375389
Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the FetusQ56937251
Presence of fetal DNA in maternal plasma and serumQ57075132
A minimal set of SNPs for the noninvasive prenatal diagnosis of β-thalassaemiaQ86014130
P275copyright licenseCreative Commons CC0 LicenseQ6938433
P6216copyright statuscopyrighted, dedicated to the public domain by copyright holderQ88088423
P433issue7
P304page(s)e0200348
P577publication date2018-07-25
P1433published inPLOS OneQ564954
P1476titleFast Temperature-Gradient COLD PCR for the enrichment of the paternally inherited SNPs in cell free fetal DNA; an application to non-invasive prenatal diagnosis of β-thalassaemia
P478volume13

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Q102152274Detection of cell-free foetal DNA fraction in female-foetus bearing pregnancies using X-chromosomal insertion/deletion polymorphisms examined by digital droplet PCRcites workP2860

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