Illumina基因组学研究

What is the GBA1 gene and why does it matter? This blog summarizes why GBA1 is a challenging gene to evaluate and how DRAGEN resolves these challenges, with performance data on its GBA1 targeted caller.

Illumina participated in this challenge with the DRAGEN 4.0 somatic small variant caller, which produced indel calls with the highest precision and overall accuracy in the applicability challenge.

In this post, we describe a WGS-based integrated PGx star allele caller for the 20 most critical PGx genes we embedded into Illumina’s DRAGEN 4.0 Bio-IT platform. We cover how the various methods work and demonstrate the pipeline’s effectiveness on both gold-standard and real-world data sets.