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  1. 1
    P634: Clinical impact of RNA sequencing on VUS resolution in a diverse rare disease cohort of over 100,000 patients*

    P634: Clinical impact of RNA sequencing on VUS resolution in a diverse rare disease cohort of over 100,000 patients* by Melanie Napier, Elizabeth Williams, Shamila Yusuff, Adi Reich, Hua Gao, Jacob Zyskind, Julianna Spangler, Katie Schafer, Bethany Friedman, Paul Kruszka, Joseph Devaney, Britt Johnson

    Published 2025-01-01
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  2. 2
    O50: Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity in 10,000 exomes and genomes

    O50: Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity in 10,000 exomes and genomes by Vincent Ustach, Maria Guillen Sacoto, Stephen McGee, Vladimir Gainullin, Kevin Arvai, Matthew Greenberg, Nadav Topaz, Francisca Millan Zamora, Kristin Monaghan, Kirsty Mcwalter, Gabriele Richard, Rebecca Torene, Kyle Retterer, Britt Johnson, Timothy Laurent

    Published 2025-01-01
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