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Illumina constellation mapped read technology uncovers hard-to-see genomic insights in GeneDx pilot
Prnewswireยท 2025-10-15 13:15
Core Insights - Illumina's constellation mapped read technology is being piloted by GeneDx to enhance the identification of difficult-to-map genetic variants associated with rare diseases, outperforming traditional methods [1][3][5] Technology Performance - GeneDx utilized NovaSeq X Plus Systems with constellation kits to analyze 160 DNA samples from individuals with known genetic diseases, demonstrating the technology's ability to accurately identify complex structural variants and repeat expansions [3][6] - Constellation technology provides rapid insights into hard-to-diagnose conditions, showing flexibility across various sample types, including buccal, blood, and prenatal samples [4][5] Industry Impact - The technology is positioned to transform the understanding and treatment of rare diseases by combining speed, simplicity, and scientific rigor, which is essential for advancing precision medicine [5][6] - Illumina's constellation technology is set to be commercially available in the first half of 2026, indicating a significant advancement in genomic sequencing capabilities [8]