{"id":36288,"date":"2025-10-17T10:57:53","date_gmt":"2025-10-17T03:57:53","guid":{"rendered":"https:\/\/thaipropertynews.com\/feeds\/?p=36288"},"modified":"2025-10-17T10:57:53","modified_gmt":"2025-10-17T03:57:53","slug":"illumina-constellation-mapped-read-technology-uncovers-hard-to-see-genomic-insights-in-genedx-pilot","status":"publish","type":"post","link":"https:\/\/thaipropertynews.com\/feeds\/?p=36288","title":{"rendered":"Illumina constellation mapped read technology uncovers hard-to-see genomic insights in GeneDx pilot"},"content":{"rendered":"\n\n\n
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Illumina’s up-and-coming constellation innovation delivers accuracy, speed, and ease of use in trial by GeneDx\u00a0<\/i><\/p>\n

Constellation outperformed orthogonal methods in identifying select difficult-to-map <\/i>variants<\/p>\n

SAN DIEGO<\/span><\/span>, Oct. 17, 2025<\/span><\/span> \/PRNewswire\/ — Illumina, Inc. (NASDAQ: ILMN)\u00a0announced that GeneDx, a leader in genetic testing for rare diseases,\u00a0is piloting Illumina’s emerging constellation mapped read technology, evaluating its performance on regions of the genome that traditional short-read technologies historically have not resolved. GeneDx’s early results illustrate the ability of constellation to rapidly identify hard-to-detect variants implicated in rare disease. GeneDx’s Director of Laboratory Innovation Joe Devaney<\/span> presented on the company’s early experiences with the constellation technology at the American Society for Human Genetics (ASHG) Annual Meeting in Boston<\/span>.<\/p>\n

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GeneDx is piloting Illumina’s emerging constellation mapped read technology.<\/span><\/p>\n<\/div>\n

“Illumina is unlocking ways to access the most difficult regions of the genome, as we simultaneously lead the industry into a new era of multiomics,” said Steve Barnard<\/span>, chief technology officer of Illumina. “Genomic insights remain critical to advance diagnosis and treatment for many rare and complex diseases, and our constellation technology provides the research insights that enable our customers to tackle these challenging conditions on the platforms they already use.”<\/p>\n

For the pilot project, GeneDx used its fleet of NovaSeq X Plus Systems with constellation kits to evaluate 160 DNA samples from individuals with known genetic disease. GeneDx compared samples run with constellation to orthogonal methods, like long-read sequencing, arrays, and multiplex ligation-dependent probe amplification. Constellation was able to accurately uncover repeat expansions, complex structural variants, and elusive regions of the genome, demonstrating the technology’s ability to meet or exceed the capabilities of established alternative methods. \u00a0<\/p>\n

Constellation was able to quickly identify difficult-to-detect, biologically relevant variants, including those in:<\/p>\n