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P659: Scalable classification of rare diseases across research studies by Tina Truong, Courtney French, Shira Rockowitz, Alan Beggs, Piotr Sliz
Published 2025-01-01Get full text
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P579: Multidimensional utility of genomic autopsy for infant mortality by Monica Wojcik, Casie Genetti, Malika Sud, Jill Madden, Kathleen Garvey, Ikeoluwa Osei-Owusu, Nicole Groussis, Sundos Al-Husayni, Pankaj Agrawal, Richard Goldstein, Heidi Rehm, Anne O'Donnell-Luria, Alan Beggs, Ingrid Holm
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O52: Diagnostic benefits of long-read genome sequencing for short-read negative rare disease cases by Alan Beggs, Tina Truong, Wanqing Shao, Bryan Leland, Kshitij Amar, Mehmet Bugrahan Duz, Nathaniel Edisis, Casie Genetti, Médéric Jeanne, Pratiksha Pradhan, Priyesh Rughani, Luca Schierbaum, Shirlee Shril, Rebecca Stubbs, Malika Sud, Kenney Tuyen, Carly Tyer, Talia Tzadikario, Scott Hickey, Sissel Juul, Piotr Sliz, Monica Wojcik, Friedhelm Hildebrandt, Catherine Brownstein, Miten Jain, Wendy Chung
Published 2025-01-01Get full text
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