Illumina基因组学研究

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.

People with little or no DMD gene activity have Duchenne muscular dystrophy, a severe, progressive, muscle-wasting disease. Classic symptomatic interventions, such as braces and corticosteroids, are beginning to give way to precision medicine approaches, including gene therapy. In this article, we describe the development of a single NGS-based assay to detect all DMD variant types, including CNV and sequence variants.

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.