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P348: De novo missense variants in ZBTB47 cause a neurodevelopmental phenotype of developmental delays, seizures, and possible movement abnormalities by Scott Ward; Lindsay Burrage; Jill Rosenfeld; Carlos Bacino; Brendan Lee; William Craigen; Lisa Emrick; Kristen Fisher; Alexandrea Wadley; Chun-Hui Tsai; Paul Benke; Maria Guillen Sacoto; Kimberly Glaser; David Murdock; Luis Rohena; K.E.M. Diderich; H.T. Bruggenwirth; Kimberly Houck is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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manner. In order to be maximally effective, all patient data, including updates generated from the backend system must be accessible, and comprehensible to all members of the clinical diagnostic team. A comprehensive user interface will provide visual tools for case and cohort organization, data quality analysis and analytics, diagnostic analysis and variant querying, an interface for patient matching and a communication system to facilitate collaboration within and across analysis teams.Results: An early version of Calypso has been deployed in the undiagnosed disease clinic and neonatal intensive care unit at the University of Utah. These clinics are the ideal testing grounds for refining all aspects of Calypso and evaluating its impact on long-term genomic diagnostic care. We have also deployed a demonstration version of Calypso in NHGRI's Undiagnosed Disease Network with the goal of realizing the collaborative diagnostic opportunities presented by a large, clinically focused research consortium. Conclusion: We are developing software to support team-based, long-term genomic analysis in challenging settings such as undiagnosed disease clinics and rapid genome sequencing programs

Who reads P348: De novo missense variants in ZBTB47 cause a neurodevelopmental phenotype of developmental delays, seizures, and possible movement abnormalities?

Author

Scott Ward; Lindsay Burrage; Jill Rosenfeld; Carlos Bacino; Brendan Lee; William Craigen; Lisa Emrick; Kristen Fisher; Alexandrea Wadley; Chun-Hui Tsai; Paul Benke; Maria Guillen Sacoto; Kimberly Glaser; David Murdock; Luis Rohena; K.E.M. Diderich; H.T. Bruggenwirth; Kimberly Houck

Publisher

Elsevier BV

Published

2023

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)