Illumina Genomics Research

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.

Historically, detecting different sizes of genetic variants has required using multiple different tests. By combining Illumina WGS with secondary analysis algorithms built into the DRAGEN Bio-IT Platform, researchers can achieve high-sensitivity detection of all these different variant types using a mixture of methods described here.