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structural variants

  • Artificial Intelligence,Data Management,Precision medicine,Research & Development,Technology and platforms

    PacBio-led team publishes ‘Platinum Pedigree’ benchmark to boost AI accuracy in hard-to-sequence genome regions

    A newly published benchmark dataset is helping push variant detection [...]

    August 5, 2025
  • Drug Development,Global health,Precision medicine,Rare Diseases,Research & Development,Technology and platforms

    First Arab human pangenome reveals millions of novel variants using long-read sequencing

    Study powered by PacBio HiFi sequencing offers new insight into [...]

    July 28, 2025

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