ArticleProceedings of the National Academy of Sciences of the United States of America1999
Direct genetic analysis by matrix-assisted laser desorption/ionization mass spectrometry.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 138 citations in OpenAlex.
- New Gene Variants Associated with the Risk of Chronic HBV Infection.Virologica Sinica · 2020Article
- An application of competitive reporter monitored amplification (CMA) for rapid detection of single nucleotide polymorphisms (SNPs).PloS one · 2017Article
- Rational, modular adaptation of enzyme-free DNA circuits to multiple detection methods.Nucleic acids research · 2011Article
- A soybean transcript map: gene distribution, haplotype and single-nucleotide polymorphism analysis.Genetics · 2007Article
- Optimized suppression of adducts in polymerase chain reaction products for semi-quantitative SNP genotyping by liquid chromatography-mass spectrometry.Journal of the American Society for Mass Spectrometry · 2004Article
- Straightforward detection of SNPs in double-stranded DNA by using exonuclease III/nuclease S1/PNA system.Nucleic acids research · 2004Article
- On-line integration of PCR and cycle sequencing in capillaries: from human genomic DNA directly to called bases.Nucleic acids research · 2003Article
- Molecular haplotyping at high throughput.Nucleic acids research · 2002Article
- Solid phase capturable dideoxynucleotides for multiplex genotyping using mass spectrometry.Nucleic acids research · 2002Article
- Hierarchical high-throughput SNP genotyping of the human Y chromosome using MALDI-TOF mass spectrometry.Nucleic acids research · 2002Article
- Facile method for automated genotyping of single nucleotide polymorphisms by mass spectrometry.Nucleic acids research · 2002Article
- Progress in high throughput SNP genotyping methods.The pharmacogenomics journal · 2002Review
- Analysis of single nucleotide polymorphisms with solid phase invasive cleavage reactions.Nucleic acids research · 2001Article
- Full flexibility genotyping of single nucleotide polymorphisms by the GOOD assay.Nucleic acids research · 2000Article
- Rapid determination of short DNA sequences by the use of MALDI-MS.Nucleic acids research · 2000Article
- A new MALDI-TOF based mini-sequencing assay for genotyping of SNPS.Nucleic acids research · 2000Article
- A multi-site study for detection of the factor V (Leiden) mutation from genomic DNA using a homogeneous invader microtiter plate fluorescence resonance energy transfer (FRET) assay.The Journal of molecular diagnostics : JMD · 2000Article
- Use of single nucleotide polymorphisms for gene discovery in hypertension.Current hypertension reports · 2000Review
- Genetics of rheumatoid arthritis: confronting complexity.Arthritis research · 1999Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
An approach to analyzing single-nucleotide polymorphisms (SNPs) found in the human genome has been developed that couples a recently developed invasive cleavage assay for nucleic acids with detection by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS). The invasive cleavage assay is a signal amplification method that enables the analysis of SNPs by MALDI-TOF MS directly from human genomic DNA without the need for initial target amplification by PCR. The results presented here show the successful genotyping by this approach of twelve SNPs located randomly throughout the human genome. Conventional Sanger sequencing of these SNP positions confirmed the accuracy of the MALDI-TOF MS analysis results. The ability to unambiguously detect both homozygous and heterozygous genotypes is clearly demonstrated. The elimination of the need for target amplification by PCR, combined with the inherently rapid and accurate nature of detection by MALDI-TOF MS, gives this approach unique and significant advantages in the high-throughput genotyping of large numbers of SNPs, useful for locating, identifying, and characterizing the function of specific genes.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.