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P539: Chatbot-assisted informed consent in genomics research* by Rebekah Barrick, Eshita Shah, Jonathan LoTempio, Hallie Andrew, Emmanuèle Délot, Vincent Fusaro, Seth Berger, Eric Vilain, Changrui Xiao
Published 2025-01-01Get full text
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P185: Project FIND-OUT: Outpatient genome sequencing in expanded pool of symptomatic infants at risk for genetic neurodevelopmental disorders provides earlier diagnoses by Gabriela Pierobon Mays, Katie Schmidt, Corinne Hunnicutt, Rithika Tummala, Elizabeth Rountree, Natasha Ludwig, Sho Yano, Sylvia Bonnie Liebers, Annie Baxter, Deborah Ondrasik, Seth Berger, Kimberly Goodspeed, Terry Jo Bichell
Published 2025-01-01Get full text
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O28: GREGoR: Accelerating genomics for rare diseases by Moez Dawood, Ben Heavner, Marsha Wheeler, Rachel Ungar, Jonathan LoTempio, Laurens Wiel, Seth Berger, Jonathan Bernstein, Jessica Chong, Emmanuèle Délot, Evan Eichler, Richard Gibbs, James Lupski, Ali Shojaie, Michael Talkowski, Chia-Lin Wei, Matthew Wheeler, Eric Vilain, Fritz Sedlazeck, Danny Miller, Casey Gifford, Susanne May, Heidi Rehm, Anne O'Donnell-Luria, Jennifer Posey, Lisa Chadwick, Michael Bamshad, Stephen Montgomery
Published 2025-01-01Get full text
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Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases by Sarah L. Stenton, Kristen Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia, Ikeoluwa Osei-Owusu, Lynn Pais, Emily O’Heir, Christina Austin-Tse, Melanie O’Leary, Mayada Abu Shanap, Chelsea Barrows, Seth Berger, Carsten G. Bönnemann, Kinga M. Bujakowska, Dean R. Campagna, Alison G. Compton, Sandra Donkervoort, Mark D. Fleming, Lyndon Gallacher, Joseph G. Gleeson, Goknur Haliloglu, Eric A. Pierce, Emily M. Place, Vijay G. Sankaran, Akiko Shimamura, Zornitza Stark, Tiong Yang Tan, David R. Thorburn, Susan M. White, Maha S. Zaki, Eric Vilain, Monkol Lek, Heidi L. Rehm, Anne O’Donnell-Luria
Published 2025-07-01Get full text
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