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.

With the DRAGEN v4.3 release, we introduce the second-generation multigenome mapper. This article discusses the evolution of its methodology using pangenome references and shows the significant accuracy improvement both in the All Benchmark Regions and Difficult-to-Map Regions of the genome, with the second-generation multigenome mapper and the most recent 128-samples pangenome reference.

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.