(Q35127374)

6 August 2017

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title

Single nucleotide polymorphism genotyping: biochemistry, protocol, cost and throughput (English)

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single-nucleotide polymorphism

6 August 2017

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Chen X

1

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6 August 2017

Sullivan PF

series ordinal

2

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6 August 2017

language of work or name

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1 January 2003

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The Pharmacogenomics Journal

6 August 2017

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6 August 2017

3

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6 August 2017

77-96

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6 August 2017

2

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https://scigraph.springernature.com/pub.10.1038/sj.tpj.6500167

6 August 2017

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A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

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The Sequence of the Human Genome

21 January 2018

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Accessing genetic variation: genotyping single nucleotide polymorphisms

21 January 2018

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Methods for genotyping single nucleotide polymorphisms

21 January 2018

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Single nucleotide polymorphism seeking long term association with complex disease

21 January 2018

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L-RCA (ligation-rolling circle amplification): a general method for genotyping of single nucleotide polymorphisms (SNPs).

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

The ligation amplification reaction (LAR)--amplification of specific DNA sequences using sequential rounds of template-dependent ligation

21 January 2018

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Large-scale SNP scoring from unamplified genomic DNA.

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Full flexibility genotyping of single nucleotide polymorphisms by the GOOD assay

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

A homogeneous, ligase-mediated DNA diagnostic test

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

High-throughput multiplex SNP genotyping with MALDI-TOF mass spectrometry: practice, problems and promise

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

A new MALDI-TOF based mini-sequencing assay for genotyping of SNPS.

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Stable-isotope-assisted MALDI-TOF mass spectrometry for accurate determination of nucleotide compositions of PCR products

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Single-nucleotide polymorphism analysis by MALDI-TOF mass spectrometry

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

High level multiplex genotyping by MALDI-TOF mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Single nucleotide polymorphic discrimination by an electronic dot blot assay on semiconductor microchips

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Pyrophosphorolysis-activatable oligonucleotides may facilitate detection of rare alleles, mutation scanning and analysis of chromatin structures

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

DNA sequencing with chain-terminating inhibitors

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Minisequencing on oligonucleotide microarrays: comparison of immobilisation chemistries

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Real-time DNA sequencing using detection of pyrophosphate release

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

A sequencing method based on real-time pyrophosphate

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Pyrosequencing sheds light on DNA sequencing

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Secondary structure prediction and structure-specific sequence analysis of single-stranded DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Rapid genotyping of single nucleotide polymorphisms using novel minor groove binding DNA oligonucleotides (MGB probes).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Ligation reaction specificities of an NAD(+)-dependent DNA ligase from the hyperthermophile Aquifex aeolicus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Biochemical properties of a high fidelity DNA ligase from Thermus species AK16D

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Specificity and fidelity of strand joining by Chlorella virus DNA ligase

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

RNA-templated DNA ligation for transcript analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Integration of DNA ligation and rolling circle amplification for the homogeneous, end-point detection of single nucleotide polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

LNA-enhanced detection of single nucleotide polymorphisms in the apolipoprotein E.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Single nucleotide polymorphism genotyping using short, fluorescently labeled locked nucleic acid (LNA) probes and fluorescence polarization detection

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Homogeneous genotyping assays for single nucleotide polymorphisms with fluorescence resonance energy transfer detection

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Fluorescence energy transfer detection as a homogeneous DNA diagnostic method

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Single-mismatch detection using gold-quenched fluorescent oligonucleotides

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Energy transfer primers: a new fluorescence labeling paradigm for DNA sequencing and analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Fluorescence energy transfer dye-labeled primers for DNA sequencing and analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Analysis of single nucleotide polymorphisms with solid phase invasive cleavage reactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Detection of PCR products using self-probing amplicons and fluorescence

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Duplex Scorpion primers in SNP analysis and FRET applications

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Fluorescence polarization in homogeneous nucleic acid analysis II: 5'-nuclease assay

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

MALDI-TOF mass spectrometry-based SNP genotyping

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

MALDI-TOF mass spectrometric typing of single nucleotide polymorphisms with mass-tagged ddNTPs

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Large-scale determination of SNP allele frequencies in DNA pools using MALDI-TOF mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Quantitative technologies for allele frequency estimation of SNPs in DNA pools.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

High-throughput screening for evidence of association by using mass spectrometry genotyping on DNA pools

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

A single residue in DNA polymerases of the Escherichia coli DNA polymerase I family is critical for distinguishing between deoxy- and dideoxyribonucleotides

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

GENOMICS: Genetic Association by Whole-Genome Analysis?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

High-throughput genotyping assay approaches

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Hierarchical high-throughput SNP genotyping of the human Y chromosome using MALDI-TOF mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Analysis of proteins and proteomes by mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Comparison of the 5' nuclease activities of taq DNA polymerase and its isolated nuclease domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Genetic identification by mass spectrometric analysis of single-nucleotide polymorphisms: ternary encoding of genotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Direct genetic analysis by matrix-assisted laser desorption/ionization mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

A high-throughput SNP typing system for genome-wide association studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

SNP genotyping on pooled DNAs: comparison of genotyping technologies and a semi automated method for data storage and analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Efficiency of DNA pooling to estimate joint allele frequencies and measure linkage disequilibrium

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Identification of the sources of error in allele frequency estimations from pooled DNA indicates an optimal experimental design

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Association testing by DNA pooling: an effective initial screen

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Method for one-step preparation of double-stranded DNA template applicable for use with Pyrosequencing technology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

Clinical, genetic, and pharmacogenetic applications of the Invader assay

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

A Pilot C282Y Hemochromatosis Screening in Italian Newborns by TaqMan™ Technology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Multicolor molecular beacons for allele discrimination

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Allelic discrimination using fluorogenic probes and the 5' nuclease assay

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Rapid characterization of DNA oligomers and genotyping of single nucleotide polymorphism using nucleotide-specific mass tags

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Fluorescent microsphere-based readout technology for multiplexed human single nucleotide polymorphism analysis and bacterial identification

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

High-density fiber-optic DNA random microsphere array

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Techview: molecular biology. Bead-based fiber-optic arrays

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Pyrophosphorolysis-activated polymerization (PAP): application to allele-specific amplification.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Universal SNP genotyping assay with fluorescence polarization detection

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Discrimination of primer 3'-nucleotide mismatch by taq DNA polymerase during polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

A comparison of eubacterial and archaeal structure-specific 5'-exonucleases

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Enhanced detection and distinction of RNA by enzymatic probe ligation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

High-throughput variation detection and genotyping using microarrays

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Why FRET over genomics?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Combinatorial fluorescence energy transfer tags for multiplex biological assays.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Genotools SNP manager: a new software for automated high-throughput MALDI-TOF mass spectrometry SNP genotyping

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Quantitative approach to single-nucleotide polymorphism analysis using MALDI-TOF mass spectrometry

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Multiplexed single nucleotide polymorphism genotyping by oligonucleotide ligation and flow cytometry

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Biallelic discrimination assays for the three common Ashkenazi Jewish mutations and a common non-Jewish mutation, in Tay-Sachs disease, using fluorogenic TaqMan probes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Flow cytometric platform for high-throughput single nucleotide polymorphism analysis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Suspension arrays for high throughput, multiplexed single nucleotide polymorphism genotyping

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Utility and accuracy of template-directed dye-terminator incorporation with fluorescence-polarization detection for genotyping single nucleotide polymorphisms

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Large-scale genotyping of single nucleotide polymorphisms by Pyrosequencing? and validation against the 5?nuclease (Taqman�) assay

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Pyrosequence-based typing of alleles of the HLA-DQB1 gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Pyrosequencing technology and the need for versatile solutions in molecular clinical research

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Typing of human papillomavirus by pyrosequencing

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Comparison study for identifying promoter allelic polymorphism in interleukin 10 and tumor necrosis factor alpha genes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Non-PCR-dependent detection of the factor V Leiden mutation from genomic DNA using a homogeneous invader microtiter plate assay

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Sugar additives for MALDI matrices improve signal allowing the smallest nucleotide change (A:T) in a DNA sequence to be resolved

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Detection of single-base changes using a bioluminometric primer extension assay

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Estimation of single nucleotide polymorphism allele frequency in DNA pools by using Pyrosequencing

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Assessing allele frequencies of single nucleotide polymorphisms in DNA pools by pyrosequencing technology

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Determination of SNP allele frequencies in pooled DNAs by primer extension genotyping and denaturing high-performance liquid chromatography

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Kinetic FP-TDI assay for SNP allele frequency determination

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Analysis of single nucleotide polymorphisms by primer extension and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Rapid genotyping by MALDI-monitored nuclease selection from probe libraries

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Method enabling pyrosequencing on double-stranded DNA

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500167

7 January 2021

Identifiers

DOI

10.1038/SJ.TPJ.6500167

1 reference

release_ymszpkulyrgshhu37nc5ksckqq

6 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ymszpkulyrgshhu37nc5ksckqq

24 November 2022

mapped directly with Wikidata item

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