Accessing genetic variation: genotyping single nucleotide polymorphisms (Q28208864)

The Sequence of the Human Genome

21 January 2018

1 reference

Pharmacogenomics: translating functional genomics into rational therapeutics

21 January 2018

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Mutation in blood coagulation factor V associated with resistance to activated protein C.

21 January 2018

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The distribution of human genetic diversity: a comparison of mitochondrial, autosomal, and Y-chromosome data

21 January 2018

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Determination of ancestral alleles for human single-nucleotide polymorphisms using high-density oligonucleotide arrays

21 January 2018

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The future of genetic studies of complex human diseases

21 January 2018

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The future of genetic epidemiology

21 January 2018

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Single-nucleotide polymorphisms in the public domain: how useful are they?

21 January 2018

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An evaluation of the draft human genome sequence

21 January 2018

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High-resolution haplotype structure in the human genome

21 January 2018

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Linkage disequilibrium in the human genome

21 January 2018

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How many diseases does it take to map a gene with SNPs?

21 January 2018

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Genetic epidemiology of single-nucleotide polymorphisms.

21 January 2018

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Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel

21 January 2018

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Prenatal screening for cystic fibrosis carriers: an economic evaluation

21 January 2018

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DNA sequencing with chain-terminating inhibitors

21 January 2018

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Initial sequencing and analysis of the human genome

21 January 2018

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Hybridization of synthetic oligodeoxyribonucleotides to ΦX174 DNA: the effect of single base pair mismatch

21 January 2018

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Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides

21 January 2018

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[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

21 January 2018

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Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

21 January 2018

1 reference

Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes

21 January 2018

1 reference

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

21 January 2018

1 reference

SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease

21 January 2018

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In silico mapping of complex disease-related traits in mice

21 January 2018

1 reference

A Ligase-Mediated Gene Detection Technique

21 January 2018

1 reference

Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays.

21 January 2018

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Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays

21 January 2018

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Light-generated oligonucleotide arrays for rapid DNA sequence analysis

21 January 2018

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Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome

21 January 2018

1 reference

Genome-wide mapping with biallelic markers in Arabidopsis thaliana

21 January 2018

1 reference

Parallel thermodynamic analysis of duplexes on oligodeoxyribonucleotide microchips

21 January 2018

1 reference

Robust and accurate single nucleotide polymorphism genotyping by dynamic allele-specific hybridization (DASH): design criteria and assay validation

21 January 2018

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Rapid determination of single base mismatch mutations in DNA hybrids by direct electric field control

21 January 2018

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Genetic analysis by peptide nucleic acid affinity MALDI-TOF mass spectrometry

21 January 2018

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Discrimination of Single-Nucleotide Polymorphisms in Human DNA Using Peptide Nucleic Acid Probes Detected by MALDI-TOF Mass Spectrometry

21 January 2018

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Molecular Beacons: Probes that Fluoresce upon Hybridization

21 January 2018

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Thermodynamic basis of the enhanced specificity of structured DNA probes

21 January 2018

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Wavelength-shifting molecular beacons

21 January 2018

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Screening unlabeled DNA targets with randomly ordered fiber-optic gene arrays

21 January 2018

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A closed tube format for amplification and detection of DNA based on energy transfer

21 January 2018

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Detection of PCR products using self-probing amplicons and fluorescence

21 January 2018

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High-throughput SNP genotyping by allele-specific PCR with universal energy-transfer-labeled primers

21 January 2018

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Homogeneous assays for single-nucleotide polymorphism typing using AlphaScreen

21 January 2018

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An efficient procedure for genotyping single nucleotide polymorphisms.

21 January 2018

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High-performance multiplex SNP analysis of three hemochromatosis-related mutations with capillary array electrophoresis microplates

21 January 2018

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Genetic Bit Analysis: a solid phase method for typing single nucleotide polymorphisms

21 January 2018

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Solid Phase DNA Minisequencing by an Enzymatic Luminometric Inorganic Pyrophosphate Detection Assay

21 January 2018

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Real-time DNA sequencing using detection of pyrophosphate release

21 January 2018

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Determination of single-nucleotide polymorphisms by real-time pyrophosphate DNA sequencing

21 January 2018

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High level multiplex genotyping by MALDI-TOF mass spectrometry

21 January 2018

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A novel procedure for efficient genotyping of single nucleotide polymorphisms

21 January 2018

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Y-chromosomal SNPs in Finno-Ugric-speaking populations analyzed by minisequencing on microarrays

21 January 2018

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Minisequencing on oligonucleotide microarrays: comparison of immobilisation chemistries

21 January 2018

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A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays

21 January 2018

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Polymorphism analysis and gene detection by minisequencing on an array of gel-immobilized primers

21 January 2018

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Detection of mitochondrial single nucleotide polymorphisms using a primer elongation reaction on oligonucleotide microarrays

21 January 2018

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SBE-TAGS: an array-based method for efficient single-nucleotide polymorphism genotyping

21 January 2018

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Parallel genotyping of human SNPs using generic high-density oligonucleotide tag arrays

21 January 2018

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A microsphere-based assay for multiplexed single nucleotide polymorphism analysis using single base chain extension

21 January 2018

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Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples

21 January 2018

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Template-directed dye-terminator incorporation (TDI) assay: a homogeneous DNA diagnostic method based on fluorescence resonance energy transfer

21 January 2018

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Automated DNA diagnostics using an ELISA-based oligonucleotide ligation assay

21 January 2018

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High-density multiplex detection of nucleic acid sequences: oligonucleotide ligation assay and sequence-coded separation

21 January 2018

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Mutation detection and single-molecule counting using isothermal rolling-circle amplification

21 January 2018

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Universal DNA microarray method for multiplex detection of low abundance point mutations

21 January 2018

1 reference

Genetic disease detection and DNA amplification using cloned thermostable ligase

21 January 2018

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Improving the fidelity of Thermus thermophilus DNA ligase

21 January 2018

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Multiplex PCR/LDR for detection of K-ras mutations in primary colon tumors

21 January 2018

1 reference

A Homogeneous, Ligase-Mediated DNA Diagnostic Test

21 January 2018

1 reference

Padlock Probes: Circularizing Oligonucleotides for Localized DNA Detection

21 January 2018

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Rolling replication of short DNA circles

21 January 2018

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Signal amplification of padlock probes by rolling circle replication

21 January 2018

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High-throughput genotyping of single nucleotide polymorphisms with rolling circle amplification

21 January 2018

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Sensitive detection of DNA polymorphisms by the serial invasive signal amplification reaction

21 January 2018

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Evaluation of single nucleotide polymorphism typing with invader on PCR amplicons and its automation

21 January 2018

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Analysis of single nucleotide polymorphisms with solid phase invasive cleavage reactions

21 January 2018

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Flexible use of high-density oligonucleotide arrays for single-nucleotide polymorphism discovery and validation

21 January 2018

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In situ localized amplification and contact replication of many individual DNA molecules

21 January 2018

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Integration of multiple PCR amplifications and DNA mutation analyses by using oligonucleotide microchip

21 January 2018

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Anchored multiplex amplification on a microelectronic chip array

21 January 2018

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A method for parallel, automated, thermal cycling of submicroliter samples

21 January 2018

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Single-mismatch detection using gold-quenched fluorescent oligonucleotides

21 January 2018

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A new microvolume technique for bioaffinity assays using two-photon excitation.

21 January 2018

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Quantum-dot-tagged microbeads for multiplexed optical coding of biomolecules

21 January 2018

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Shotgun optical maps of the whole Escherichia coli O157:H7 genome

21 January 2018

1 reference

Linkage and association analysis of angiotensin I-converting enzyme (ACE)-gene polymorphisms with ACE concentration and blood pressure

21 January 2018

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Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease

21 January 2018

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Sequence diversity and large-scale typing of SNPs in the human apolipoprotein E gene

21 January 2018

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High-throughput SNP allele-frequency determination in pooled DNA samples by kinetic PCR.

21 January 2018

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Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease

21 January 2018

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Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse

21 January 2018

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Haplotype tagging for the identification of common disease genes

21 January 2018

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Apolipoprotein E polymorphism and atherosclerosis

21 January 2018

1 reference

7 January 2021

Human genome research. SNP mappers confront reality and find it daunting

1 reference

7 January 2021

Prospects for whole-genome linkage disequilibrium mapping of common disease genes

1 reference

7 January 2021

Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories: report of a large European external quality assessment

1 reference

7 January 2021

Diagnosis of Sickle Cell Anemia and β-Thalassemia with Enzymatically Amplified DNA and Nonradioactive Allele-Specific Oligonucleotide Probes

1 reference

7 January 2021

Analyzing and comparing nucleic acid sequences by hybridization to arrays of oligonucleotides: evaluation using experimental models

1 reference

7 January 2021

A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E

1 reference

7 January 2021

Determining the influence of structure on hybridization using oligonucleotide arrays

1 reference

7 January 2021

Oligonucleotides with fluorescent dyes at opposite ends provide a quenched probe system useful for detecting PCR product and nucleic acid hybridization

1 reference

7 January 2021

Allelic discrimination using fluorogenic probes and the 5' nuclease assay

1 reference

7 January 2021

Multicolor molecular beacons for allele discrimination

1 reference

7 January 2021

Seven-color, homogeneous detection of six PCR products

1 reference

7 January 2021

Combinatorial fluorescence energy transfer tags for multiplex biological assays.

1 reference

7 January 2021

Homogeneous scoring of single-nucleotide polymorphisms: comparison of the 5'-nuclease TaqMan assay and Molecular Beacon probes

1 reference

7 January 2021

From gels to chips: "minisequencing" primer extension for analysis of point mutations and single nucleotide polymorphisms

1 reference

7 January 2021

Mutation detection by solid phase primer extension

1 reference

7 January 2021

Rapid detection of mitochondrial sequence polymorphisms using multiplex solid-phase fluorescent minisequencing

1 reference

7 January 2021

Single nucleotide polymorphism determination using primer extension and time-of-flight mass spectrometry

1 reference

7 January 2021

Simple two-color array-based approach for mutation detection

1 reference

7 January 2021

Flow cytometry-based minisequencing: a new platform for high-throughput single-nucleotide polymorphism scoring

1 reference

7 January 2021

Flow cytometric platform for high-throughput single nucleotide polymorphism analysis

1 reference

7 January 2021

Dual-color detection of DNA sequence variants by ligase-mediated analysis

1 reference

7 January 2021

Multiplexed single nucleotide polymorphism genotyping by oligonucleotide ligation and flow cytometry

1 reference

7 January 2021

Detection of steroid 21-hydroxylase alleles using gene-specific PCR and a multiplexed ligation detection reaction

1 reference

7 January 2021

Padlock probes reveal single-nucleotide differences, parent of origin and in situ distribution of centromeric sequences in human chromosomes 13 and 21

1 reference

7 January 2021

Polymorphism identification and quantitative detection of genomic DNA by invasive cleavage of oligonucleotide probes

1 reference

7 January 2021

Microfluidics--downsizing large-scale biology

1 reference

7 January 2021

Scanometric DNA Array Detection with Nanoparticle Probes

1 reference

7 January 2021

Fiberoptic DNA Sensor Array Capable of Detecting Point Mutations

1 reference

7 January 2021

Dissecting a population genome for targeted screening of disease mutations

1 reference

7 January 2021