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.
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.
Annotating genomic variants is a complex process, and commonly used tools in this space have accuracy and/or scaling limitations. Newly added to Emedgene, and available in DRAGEN Secondary Analysis, Illumina Connected Annotations provides exceptional performance in this field. Top population studies, including All of Us and UK Biobank, rely on this tool.
