Illumina Genomics Research

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.

The first shipments of the NovaSeq X Series introduced XLEAP-SBS chemistry on Illumina’s next-generation high-throughput platform. With the 25B flow cell, NovaSeq X software update 1.2 enabled up to 16 terabases in a dual flow cell sequencing run. Software update 1.3 continues the evolution of the NovaSeq X platform by enabling significant improvements to data quality and instrument robustness.

Constellation technology utilizes a highly simplified NGS workflow that enables on-flow-cell library prep that completely eliminates standard library prep prior to sequencing. Standard cluster generation and SBS sequencing is combined with cluster proximity information in DRAGEN algorithms to unlock long-distance information. Early testing demonstrates enhanced mapping of challenging genomic regions, ultra-long phasing, and improved detection of large structural rearrangements.