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Infinium Assay for Large-scale SNP Genotyping Applications
Published on: November 19, 2013
A nanoliter fluidic platform for large-scale single nucleotide polymorphism genotyping
Douglas G Roberts1, Tom B Morrison, Shau Neen Liu-Cordero
1BioTrove Inc., Woburn, MA 01810, USA.
Biotechniques
|March 26, 2009
Summary
This study introduces a nanofluidic SNP genotyping platform using TaqMan assays. The new system offers comparable accuracy and call rates to existing methods, overcoming cost and technical barriers for large-scale genetic studies.
Area of Science:
- Genetics
- Molecular Biology
- Bioengineering
Background:
- Single nucleotide polymorphisms (SNPs) are crucial for understanding genetic traits and diseases.
- Validating SNP associations in large cohorts is hindered by high costs and technical challenges of current genotyping platforms.
Purpose of the Study:
- To implement and evaluate a nanofluidic SNP genotyping platform.
- To assess the performance of a high-density microplate system utilizing TaqMan assays for SNP genotyping.
Main Methods:
- Implementation of the 5'-exonuclease, biallelic PCR assay (TaqMan) in a nanofluidic microplate.
- Performance assessment using 32 TaqMan SNP genotyping assays targeting human polymorphisms.
Main Results:
- The nanofluidic platform demonstrated genotyping call rates comparable to conventional microplate systems.
- Accuracies achieved with the nanoliter fluidic system were equivalent to larger volume reactions.
Conclusions:
- The developed nanoliter fluidic SNP genotyping platform is a viable, cost-effective alternative for large-scale genetic analysis.
- This technology can facilitate broader validation of SNP associations, advancing diagnostics and agricultural genetics.
