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Related Concept Videos

Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Modern Molecular Taxonomy01:29

Modern Molecular Taxonomy

Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...
Genomics02:02

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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DNA Microarrays02:34

DNA Microarrays

Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...

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Related Experiment Video

Updated: Jun 23, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

Genotyping technologies for genetic research.

Jiannis Ragoussis1

  • 1Genomics Laboratory, Wellcome Trust Centre for Human Genetics, Oxford University, Oxford OX3 7BN, United Kingdom. ioannis.ragoussis@well.ox.ac.uk

Annual Review of Genomics and Human Genetics
|May 21, 2009
PubMed
Summary

Advances in genotyping technology, including SNP arrays, have accelerated the discovery of genes linked to common diseases. Future innovations aim to further increase sample throughput and reduce costs.

Area of Science:

  • Genetics
  • Genomics
  • Biotechnology

Background:

  • Recent years have seen significant advancements in genotyping technologies.
  • The cost per genotype has dramatically decreased, enabling large-scale studies.
  • High-density SNP arrays now accommodate over a million assays.

Purpose of the Study:

  • To review high-throughput genotyping platforms and their role in genetic research.
  • To discuss the application of SNP arrays in detecting structural variations and long-range haplotyping.
  • To explore future trends in genotyping technology.

Main Methods:

  • Review of high-throughput genotyping platforms.
  • Analysis of SNP arrays for structural variation detection.
  • Presentation of methods for long-range haplotyping.

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Main Results:

  • Explosion of positive whole-genome association studies (WGAS).
  • Identification of numerous new genes associated with common diseases.
  • Demonstrated utility of SNP arrays for structural variation detection and haplotyping.

Conclusions:

  • Genotyping technology advancements have revolutionized genetic association studies.
  • SNP arrays are crucial for genotype validation, replication, and structural variation analysis.
  • Future advancements in automation, microfluidics, and nanotechnologies will further enhance sample throughput and cost-efficiency.