Illumina Genomics Research

Pathogenetic small-variant detection in the PMS2 gene related to Lynch syndrome is confounded by the pseudogene PMS2CL, but DRAGEN 4.3 introduces a refined algorithm for empowering small-variant detection in PMS2 using whole-genome sequencing. By applying this approach on 22 non-cell-line samples, all expected P/LP variants are detected, and this method is extensible to other genes with single- or multi-copy paralogues.

The Illumina DRAGEN secondary analysis pipeline has been established as a trusted, comprehensive, accurate, and fast solution that helps NGS users retrieve maximal information out of their data. DRAGEN analysis onboard the NovaSeq X offers a unique, cost-effective way for users to analyze the enormous amount of data generated.

In this article, we highlight the improvements to sequencing and calibration workflows that enable the NovaSeq X to deliver 85% of bases in the highest quality bin (Q40) with excellent correlation to empirical accuracy; the use of PCR-free library preps in the Q-score calibration process; and the data management and cost benefits of quantizing the Q scores to three bins.