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Related Experiment Video

Updated: Jul 16, 2026

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

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

High-throughput SNP genotyping by SBE/SBH.

Ion I Măndoiu1, Claudia Prăjescu

  • 1Computer Science and Engineering Department, University of Connecticut, Storrs, CT 06269-2155, USA. ion@engr.uconn.edu

IEEE Transactions on Nanobioscience
|March 31, 2007
PubMed
Summary

This study introduces a new genotyping assay combining single-base extension and sequencing by hybridization. This flexible, cost-effective method enables high-throughput genotyping of hundreds of thousands of single nucleotide polymorphisms (SNPs).

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Area of Science:

  • Genomics
  • Molecular Biology
  • Bioinformatics

Background:

  • Current single nucleotide polymorphism (SNP) genotyping technologies have limitations in multiplexing capabilities for user-selected SNP sets.
  • Despite advancements, existing methods struggle to efficiently handle large, custom SNP panels.

Purpose of the Study:

  • To propose a novel genotyping assay architecture that overcomes current multiplexing limitations.
  • To offer a flexible and cost-effective solution for high-throughput SNP genotyping.

Main Methods:

  • A new assay architecture combining multiplexed solution-phase single-base extension (SBE) reactions.
  • Integration of sequencing by hybridization (SBH) utilizing universal DNA arrays, specifically all k-mer arrays.

Main Results:

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Last Updated: Jul 16, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

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  • Simulation results indicate the proposed SBE/SBH architecture is a viable alternative to current industry assays.
  • The method demonstrates feasibility for genotyping up to hundreds of thousands of SNPs in a single assay.
  • Performance was validated using both randomly generated datasets and data from the NCBI dbSNP database.

Conclusions:

  • The proposed SBE/SBH assay architecture offers a significant advancement in SNP genotyping.
  • This approach provides a flexible, cost-effective, and scalable solution for large-scale SNP analysis.