Illumina Genomics Research

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.

Research on cancers such as acute myeloid leukemia, myelodysplastic syndrome, myeloma, and chronic lymphocytic leukemia has led to major improvements in personalized care. Traditional approaches to testing may include karyotype, FISH (fluorescence in situ hybridization), chromosomal microarray, and gene panels. Whole-genome sequencing can detect all the critical abnormalities and variant types relevant for these conditions with a single workflow.