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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
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Microsatellite Markers in Biobanking: A New Multiplexed Assay
Gretchen Smith1, Debra Mathews2, Samuel Sander-Effron1
1Coriell Institute for Medical Research, Camden, New Jersey, USA.
Biopreservation and Biobanking
|September 1, 2021
Summary
This study introduces a new microsatellite (MSAT) assay for biobanks, avoiding forensic markers to enhance participant privacy. This genetic profiling method aids biospecimen authentication while protecting donor data.
Area of Science:
- Genomics
- Biobanking
- Forensic Science
Background:
- Microsatellites (MSATs) provide rapid, cost-effective biospecimen genetic profiling for biobanks.
- Genetic profiles authenticate samples from the same individual or original submission over time.
- Existing privacy protections like Certificates of Confidentiality have limitations.
Purpose of the Study:
- To evaluate the use of forensic Combined DNA Index System (CODIS) MSAT markers in biobanking.
- To develop and validate an alternative MSAT assay that minimizes CODIS marker usage.
- To enhance participant privacy in biobanking initiatives.
Main Methods:
- Design of a novel multiplexed MSAT assay.
- Validation of the assay for biobanking applications.
- Exclusion of CODIS markers from the assay panel.
Main Results:
- Successful design and validation of a new multiplexed MSAT assay.
- The assay does not incorporate CODIS markers.
- Demonstrated utility for biobanking operations and quality control.
Conclusions:
- The developed MSAT assay offers a viable alternative for biobanking.
- Minimizing CODIS marker use enhances participant privacy.
- This approach supports secure and ethical biobanking practices.
