Illumina has opened an early access program for a sequencing workflow aimed at studying molecular residual disease (MRD). This research-use-only workflow is designed to detect trace amounts of circulating tumor DNA (ctDNA) in plasma samples and to support longitudinal, whole-genome studies of MRD and tumor evolution. Kits are expected to ship in the first quarter of 2027.
The workflow utilizes duplex chemistry, which confirms each base call using both complementary strands of the original DNA molecule. This increases confidence that detected changes are biological rather than errors from library preparation or sequencing. The workflow combines the NovaSeq X sequencing platform with DRAGEN bioinformatics software, achieving quality scores above Q65.
In studies, the workflow reproducibly detected ctDNA at 2.5 parts per million. NYU Langone Health is among the early access users applying this approach to MRD research. This technology may enhance the sensitivity of detecting tumor DNA in challenging settings.
Source: genengnews.com · Image: A group of scientists working in a laboratory Esculab by Esculab, CC0, via Wikimedia Commons
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