Journal ArticleDOI
Towards fully automated genome-wide polymorphism screening.
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This article is published in Nature Genetics.The article was published on 1995-04-01. It has received 372 citations till now. The article focuses on the topics: Genome.read more
Citations
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Real time quantitative PCR.
TL;DR: Unlike other quantitative PCR methods, real-time PCR does not require post-PCR sample handling, preventing potential PCR product carry-over contamination and resulting in much faster and higher throughput assays.
Journal ArticleDOI
A novel method for real time quantitative RT-PCR.
U E Gibson,C A Heid,P M Williams +2 more
TL;DR: A novel approach to quantitative reverse transcriptase polymerase chain reaction (QC RT-PCR) using real time detection and the 5' nuclease assay has been developed and provides a convenient and high-throughput format for QC RT- PCR.
Journal ArticleDOI
Quantitative Analysis of Fetal DNA in Maternal Plasma and Serum: Implications for Noninvasive Prenatal Diagnosis
Y.M. Dennis Lo,Mark S.C. Tein,Tze K. Lau,Christopher J. Haines,Tse N. Leung,Priscilla M.K. Poon,James S. Wainscoat,Philip J. Johnson,Allan M. Z. Chang,N. Magnus Hjelm +9 more
TL;DR: In this paper, a real-time quantitative PCR assay was developed to measure the concentration of fetal DNA in maternal plasma and serum, and the results showed that fetal DNA is present in high concentrations in maternal placenta, reaching a mean of 25.4 genome equivalents/ml (range 3.3-69.4) in early pregnancy and 292.2 genome equivalents /ml(range 76.9-769) in late pregnancy.
Journal ArticleDOI
Allelic discrimination using fluorogenic probes and the 5' nuclease assay.
TL;DR: The 5' nuclease (TaqMan) as discussed by the authors is a typical PCR that uses a fluorogenic probe, consisting of an oligonucleotide labeled with both a fluorescent reporter dye and a quencher dye.
Journal ArticleDOI
Genome-wide association studies: theoretical and practical concerns
TL;DR: The main factors — including models of the allelic architecture of common diseases, sample size, map density and sample-collection biases — that need to be taken into account in order to optimize the cost efficiency of identifying genuine disease-susceptibility loci are outlined.
References
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Detection of specific polymerase chain reaction product by utilizing the 5'----3' exonuclease activity of Thermus aquaticus DNA polymerase.
TL;DR: The 5'----3' exonuclease activity of the thermostable enzyme Thermus aquaticus DNA polymerase may be employed in a polymerase chain reaction product detection system to generate a specific detectable signal concomitantly with amplification.
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Allelic discrimination by nick-translation PCR with fluorogenic probes.
TL;DR: Nick-translation PCR was performed with fluorogenic probes that generated fluorescence from its indicator dye only when the sequence between the indicator and quencher dyes was perfectly complementary to target.
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Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus
Simon T. Bennett,Anneke Lucassen,S C Gough,Elizabeth E. Powell,Dag E. Undlien,L E Pritchard,Marilyn E. Merriman,Y Kawaguchi,M J Dronsfield,M J Dronsfield,Flemming Pociot +10 more
TL;DR: Although it is shown that the insulin gene is expressed biallelically in the adult pancreas, it is presented preliminary evidence that the level of transcription in vivo is correlated with allelic variation within the VNTR.
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Structure-specific endonucleolytic cleavage of nucleic acids by eubacterial DNA polymerases
TL;DR: Any linear single-stranded nucleic acid can be targeted for specific cleavage by the 5' nuclease of DNA polymerase through hybridization with an oligonucleotide that converts the desired cleavage site into a substrate.
Journal ArticleDOI
Current methods of mutation detection
TL;DR: This review covers the methods used for detection of unknown mutations, namely the ribonuclease, denaturing gradient-gel electrophoresis, carbodiimide, chemical cleavage, single-strand conformation polymorphism, heteroduplex and sequencing methods.