P524: Leveraging DNA methylation towards comprehensive rare disease diagnostics by Jia Tan, Emily Blake, Joseph Farris, Eric Klee

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P643: Mobile element insertion detection in genome sequencing of a cohort of unsolved cases by Joseph Farris, Kimberly Lauer, Camilla Dergam-Larson, Laura Lambert, Dusica Babovic-Vuksanovic, Ralitza Gavrilova, Pavel Pichurin, Eric Klee

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O61: Intragenic DMD duplications should not be presumed to be likely pathogenic: Findings from long-read sequencing by Qiliang (Andy) Ding, Jagadheshwar Balan, Noemi Vidal Folch, Angela Pickart, Jesse Walsh, Ramanath Majumdar, Eric Klee, Stephen Murphy, Devin Oglesbee, Ross Rowsey, Linda Hasadsri

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P193: Prevalence, penetrance, and phenotypic expression of cardiomyopathy-associated genetic variants in a quaternary medical center-based biobank by Marta Figueiral, Luca Fazzini, Alessia Paldino, Jennifer Arroyo, Rory Olson, Jia Tan, Joseph Farris, Josh Bublitz, Patricia Pellikka, Janet Olson, Eric Klee, Naveen Pereira

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P528: Utilizing long-read sequencing technologies to enable discovery of disease genes associated with complex neurological phenotypes by Angita Jain, Evan Udine, Joseph Farris, Mariely DeJesus Hernandez, Matheus Wilke, NiCole Finch, Richard Crook, Karthik Muthusamy, Ralitza Gavrilova, Marka van Blitterswijk, Eric Klee

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O18: BabyFORce: A pioneering program translating variants identified via rapid genome sequencing to targeted therapeutics for neonatal intensive care unit patients by Whitney Thompson, Christopher Schmitz, Filippo Pinto e Vairo, Andrew Haak, Brandi Smith, Eric Klee, Christopher Colby, Lisa Schimmenti, Christopher Moxham, Natalie Downs, Nicole Perfito, Laura Lambert

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