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.
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.
