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Human sample authentication in biomedical research: comparison of two platforms
Harshitha Shobha Manjunath1, Nicola James2, Rebecca Mathew1
1Omics Core, Integrated Genomic Services, Research Branch, Sidra Medicine, PO 26999, Doha, Qatar.
Scientific Reports
|July 8, 2021
Summary
Accurate sample identification is crucial in biomedical research. This study validates two DNA sample authentication panels, Fluidigm SNPtrace and Agena iPLEX, demonstrating their reliability in detecting contamination and ensuring data integrity.
Area of Science:
- Genomics
- Biomedical Research
- Forensic Science
Background:
- Biomedical research relies on valuable human genomic DNA samples, often irreplaceable.
- Sample misidentification and cross-contamination pose significant threats to research integrity and data accuracy.
Purpose of the Study:
- To compare the efficacy of Fluidigm SNPtrace and Agena iPLEX panels for human genomic DNA sample authentication.
- To evaluate the performance of these panels in detecting simulated cross-contamination at various percentages.
- To assess their utility in sex typing for sample verification.
Main Methods:
- Tested 14 pure human genomic DNA samples using both Fluidigm SNPtrace and Agena iPLEX panels.
- Simulated cross-contamination at 2%, 5%, 10%, 25%, and 50% for sample mix-up analysis.
- Evaluated call rates, allele intensity/probability scores, and sex typing accuracy for both panels.
Main Results:
- Both Fluidigm SNPtrace and Agena iPLEX panels demonstrated high reliability in authenticating pure DNA samples.
- The panels effectively distinguished between pure and contaminated samples across all tested contamination percentages.
- Accurate sex typing was achieved with both methods, further aiding sample verification.
Conclusions:
- Fluidigm SNPtrace and Agena iPLEX are reliable and efficient methods for human genomic DNA sample authentication.
- These panels are particularly valuable for biorepositories and core facilities to prevent data errors caused by sample mix-ups.
- The study provides essential data for selecting appropriate sample authentication strategies.
