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Illumina Unveils Breakthrough Genomic Tech at ASHG

10/17/2025

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Summary

Story summary

Illumina showcased Constellation mapped read technology at the American Society of Human Genetics meeting, highlighting its ability to identify complex genomic variants and extract long-range information from short reads.
GeneDx's pilot study demonstrated Constellation detects variants linked to rare diseases such as myotonic dystrophy and spinal muscular atrophy.
Illumina introduced its 5-Base solution for multiomics analysis and kits for NovaSeq and NextSeq systems, offering whole-genome coverage or targeted enrichment.

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Story summary

Illumina showcased Constellation mapped read technology at the American Society of Human Genetics meeting, highlighting its ability to identify complex genomic variants and extract long-range information from short reads.
GeneDx's pilot study demonstrated Constellation detects variants linked to rare diseases such as myotonic dystrophy and spinal muscular atrophy.
Illumina introduced its 5-Base solution for multiomics analysis and kits for NovaSeq and NextSeq systems, offering whole-genome coverage or targeted enrichment.