Illumina data show TruPath Genome boosts rare disease variant detection accuracy

Reuters02-25
<a href="https://laohu8.com/S/ILMN">Illumina</a> data show TruPath Genome boosts rare disease variant detection accuracy

Illumina Inc. announced research results showing its newly launched TruPath Genome whole-genome workflow can improve variant detection and long-range phasing, including in difficult-to-map “dark” genomic regions, with DRAGEN algorithms tuned to use proximity information from TruPath flow cells. The company said data demonstrating accuracy in rare genetic disease detection was presented at the AGBT meeting, alongside prior published and preprint reports, including evaluations from University Medical Center Utrecht and the University of Exeter on challenging rare-disease samples and complex structural variants.

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