Short DNA Probes Developed for Sample Tracking and Quality Assurance in Gene Panel  Testing

Both multiplexing and target-enrichment technologies are key to reducing the cost of genetic testing using next-generation sequencing (NGS). Many diagnostic laboratories routinely handle thousands of targeted resequencing samples, leading to an increased risk of accidental sample mix-ups and cross contamination. Herein, we present a short DNA fragment that can be spiked into the original genomic DNA (gDNA) or whole blood sample and tracked through to the final targeted resequencing data. This DNA fragment comprises a 15-bp unique index sequence assembled with a 120-bp fixed sequence designed for recovery in a hybridization capture reaction.

Source: Journal of Molecular Diagnostics - August 20, 2019 Category: Pathology Authors: Ryoji Fujiki, Makoto Ikeda, Osamu Ohara Source Type: research