Development and analytical validation of a next-generation sequencing based microsatellite instability (MSI) assay.

ABSTRACT:

Background

We have developed and analytically validated a next-generation sequencing (NGS) assay to classify microsatellite instability (MSI) in formalin-fixed paraffin-embedded (FFPE) tumor specimens.

Methodology

The assay relies on DNA-seq evaluation of insertion/deletion (indel) variability at 29 highly informative genomic loci to estimate MSI status without the requirement for matched-normal tissue. 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.

Results

The MSI detection method was developed on a training set (n = 94) consisting of 22 MSI-H, 24 MSS, and 47 matched normal samples and tested on an independent test set of 24 MSI-H and

SUBMITTER: Pabla S 

PROVIDER: S-EPMC6718258 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature