Genomics Articles

Recent genomic discoveries and advances

Genomics articles highlighting breakthroughs and advances in bioinformatics and clinical research from Illumina scientists and thought leaders

Discoveries by Illumina Scientists

Genotyping of High Homology HBA1 and HBA2 from Illumina Whole-Genome Sequencing

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.

Boosting variant calling performance using a high-quality reference panel for imputing low-coverage sequencing data

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.

A rapid whole-genome sequencing pipeline optimized for speed, reproducibility, and scalability

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.