Illumina Genomics Research

Our research teams have developed this recipe through a modification in the standard clustering protocol to improve sequencing in difficult-to-read regions. It may be of interest to users who need higher variant calling performance in certain classes of repetitive sequences for research purposes, and we have therefore released it on our Advanced Research Protocols portal.

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.