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Multiplexed High Resolution Melting Assay for Versatile Sample Tracking in a Diagnostic and Research Setting
Céline Helsmoortel1, R Frank Kooy1, Geert Vandeweyer1
1Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
The Journal of Molecular Diagnostics : JMD
|November 29, 2015
Summary
This study introduces a rapid genotyping assay using 21 single-nucleotide polymorphisms (SNPs) to confirm sample identity in molecular genetics. The method efficiently prevents sample swaps in complex experimental pipelines.
Area of Science:
- Molecular Genetics
- Genomics
- Biotechnology
Background:
- Complex experimental pipelines, like next-generation sequencing, increase the risk of sample swaps.
- Ensuring sample identity is crucial at the end of molecular genetics workflows.
Purpose of the Study:
- To develop a versatile and efficient assay for confirming sample identity in molecular genetics.
- To minimize sample mix-ups in complex experimental procedures.
Main Methods:
- Genotyping of 21 single-nucleotide polymorphisms (SNPs) using multiplex high-resolution melting (HRM).
- Combining primers for 2-3 SNPs per HRM reaction, requiring only eight reactions per sample.
- Utilizing SNPs also present in whole-exome sequencing data for cross-validation.
Main Results:
- A rapid and efficient SNP profiling assay was developed.
- The assay generates a unique genotype profile for reliable sample identification.
- Reduced hands-on time and reagent usage were achieved through multiplexing.
Conclusions:
- This SNP profiling assay provides a robust method for verifying sample identity in molecular genetics.
- The assay is applicable for tracking samples in custom next-generation sequencing enrichment panels.
- It offers independent validation of sample identity in both clinical and research settings.
