α-thalassemia is caused by mutations in high homology HBA1 and HBA2 genes (~97%). We present here a new WGS-based DRAGEN HBA caller that can accurately detect deletional and non-deletional variants in the HBA locus.
DRAGEN v4.0 implementation of the GLIMPSE imputation tool accelerates analysis speeds and dramatically improves variant calling performance for low-coverage data. Imputation accuracy is further enhanced by using a large, genetically diverse reference panel.
Learn how Illumina scientists reengineered a rapid whole-genome sequencing workflow to detect causative genetic variants, including structural variation, with high accuracy in 13.5 hours.
