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Development and analytical validation of a next-generation sequencing based microsatellite instabili

Development and analytical validation of a next-generation sequencing based microsatellite instabili

IMAGE: Figure 1: Development and assessment of the MSI NGS caller. (A) Principle component analysis was used to visualize separation of 94 MSS, MSI-H and normal training cases that were run… view more 

Credit: Sean T. Glenn, [email protected]

The assay has a clinically relevant five-day turnaround time and can be conducted on as little as 20 ng genomic DNA with a batch size of up to forty samples in a single run.

Assay performance with respect to accuracy, reproducibility, precision as well as control sample performance was estimated across a wide range of FFPE samples of multiple histologies to address pre-analytical variability, and analytical variability.

Dr. Sean T. Glenn from OmniSeq Inc., Buffalo, NY 14203, USA, the Center for Personalized Medicine, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA and the Department of Molecular and Cellular Biology, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA said, “Microsatellite instability (MSI) is a well-described phenomenon characterized by the altered length of short repetitive regions of DNA referred to as microsatellites.”



After amplification, fragment analysis chromatograms for each microsatellite are manually reviewed to assess differences between tumor and normal samples from the same patient in order to identify length differences,

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Article originally posted at

www.eurekalert.org



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