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Table of contents

Genome variation discovery and genotyping: approaches for 2004

Variation discovery

Slide 3

PCR (Kary Mullis 1983)

Genotyping Methods

Hybridization assay

SNP genotyping by hybridization

Reverse dot blot

Enhanced hybridization methods

TaqMan assay for SNP Genotyping

Slide 11

Slide 12

PowerPoint Presentation

GeneChip® Mapping 10K Array (Affymetrix)

Allele specific PCR for SNP genotyping

Read-out methods for allele specific PCR

‘Kinetic’ PCR for allele-specific PCR discrimination

Slide 18

Minisequencing for SNP genotyping

SNP SNaPshot Assay

Pyrosequencing

Sequenom MassEXTEND

3-plex Spectrum

Scatterplot

Positives/negatives of Sequenom genotyping by mass spec

Fluorescence polarization: PE Acycloprime FP

Fluorescence polarization

Slide 28

Minisequencing for SNP genotyping extensions and improvements

Illumina BeadArray

Slide 31

Slide 32

Ligation chain reaction (LCR)

Ligation methods

AB SNPlexTM Genotyping a new ligation-based method

AB SNPlexTM Genotyping

ParAllele Molecular Inversion Probes

Slide 38

Slide 39

Cleavage methods

Third Wave Invader assay

Genome variation discovery and genotyping: technologies and applications

Genotyping Technologies for 2004->

Author: David Kwiatkowski

Homepage: https://innateimmunity.net/

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