A pair of presentations at this year’s annual meeting of the American Society of Human Genetics showcased Illumina’s latest advancements in genomic sequencing technology. The company revealed early results from a pilot study conducted by GeneDx, which is testing Illumina’s Constellation mapped read technology as part of an early access program. This initiative aims to evaluate the technology’s performance in genomic regions that have historically posed challenges for short-read sequencing methods.
Joe Devaney, PhD, GeneDx’s director of laboratory innovation, shared insights on utilizing Constellation to detect difficult variants in rare diseases. The pilot involved analyzing 160 DNA samples from individuals with known genetic disorders, demonstrating that Constellation successfully identified complex structural variants and repeat expansions, which are often missed by traditional methods. This capability is particularly significant for genes associated with conditions like myotonic dystrophy and spinal muscular atrophy.
Illumina’s chief technology officer, Steve Barnard, emphasized that Constellation represents a breakthrough in sequencing technology by allowing for the extraction of long-range genomic information without sacrificing accuracy. The technology is set to be commercially available in the first half of 2026, compatible with the NovaSeq X series. Additionally, Illumina announced the broad release of its 5-base solution for multiomics analysis, which enables simultaneous detection of genomic variants and DNA methylation from a single sample, enhancing workflow efficiency for researchers.
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