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

Ultima Genomics UG 100 platform vs. Illumina NovaSeq X Series whole-genome sequencing benchmarking

In 2024, Ultima Genomics launched the UG 100 sequencing platform with bold performance and accuracy claims. To evaluate these claims, Illumina conducted a comparative analysis of the NovaSeq X Series and the UG 100 platform. This article details the results of the analysis.

An introduction to the Illumina 5-base solution

The Illumina 5-base solution provides a streamlined, end-to-end NGS library prep and analysis workflow for simultaneous methylation profiling and high-accuracy genetic variant calling.

Accurate HBA and SMN genotyping within an integrated NGS workflow: A step toward accessible carrier screening

Here, we present updated versions of SMN and HBA targeted callers, released in DRAGEN v4.4, as well as a spike-in panel that can be used to supplement the Illumina DNA Prep with Exome 2.5 Enrichment panel to allow for accurate HBA and SMN genotyping on Illumina exomes.