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Related Experiment Video

Updated: Jun 6, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Combining target enrichment with barcode multiplexing for high throughput SNP discovery.

Nik Cummings1, Rob King, Andre Rickers

  • 1Baker IDI Heart and Diabetes Institute, Melbourne, Australia.

BMC Genomics
|November 19, 2010
PubMed
Summary

This study introduces a cost-effective method combining targeted enrichment and multiplexing for genetic analysis. The approach successfully identifies single nucleotide polymorphism (SNP) alleles, proving effective for large-scale genetic studies.

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Area of Science:

  • Genomics
  • Molecular Biology
  • Bioinformatics

Background:

  • Genetic linkage analysis aims to identify genes influencing phenotypic traits.
  • Discovering functional variants within linked loci is challenging due to genetic diversity and incomplete variant catalogs.
  • Massively parallel sequencing advances variant discovery but is limited by sample costs; targeted enrichment and multiplexing offer partial solutions.

Purpose of the Study:

  • To develop a cost-effective method for region-specific resequencing.
  • To combine multiplexing and targeted enrichment for reduced sequencing costs.
  • To validate the method for variant discovery in large sample sets.

Main Methods:

  • Developed a strategy integrating multiplexing with solution-based targeted enrichment.

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Multiplexed Analysis of Retinal Gene Expression and Chromatin Accessibility Using scRNA-Seq and scATAC-Seq

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Last Updated: Jun 6, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Published on: June 21, 2018

Multiplexed Single Cell mRNA Sequencing Analysis of Mouse Embryonic Cells
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Multiplexed Single Cell mRNA Sequencing Analysis of Mouse Embryonic Cells

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Published on: March 12, 2021

  • Applied the method to region-specific sequencing requirements.
  • Conducted a genotyping study using uniplex, duplex, and pentaplex sequencing levels.

    • Main Results:

    • Achieved high-quality sequencing data with minimal loss of sequencing depth.
    • Successfully discovered novel single nucleotide polymorphism (SNP) alleles across all tested multiplexing levels.
    • Demonstrated the efficacy of the combined approach for variant discovery.

    Conclusions:

    • Successfully combined targeted enrichment and index barcode multiplexing to reduce costs, time, and labor for large sample processing.
    • Confirmed that the achieved sequencing depth is sufficient for reliable SNP genotyping.
    • The developed method is suitable for cost-efficient genetic analysis of large sample cohorts.