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Published on: August 20, 2019
Genetics of Disorders of Sex Development: The DSD-TRN Experience
Emmanuèle C Délot1, Jeanette C Papp2,
1Departments of Human Genetics and Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Room 5301A, 695 Charles East Young Drive South, Los Angeles, CA 90095, USA.
Abstract:
Although many next-generation sequencing platforms are being created around the world, implementation is facing multiple hurdles. A strong hurdle to the full adherence of clinical teams to the Disorders of Sex Development Translational Research Network (DSD-TRN) guidelines for standardization of reporting and practice is the current lack of integration of the standardized clinical forms into the various electronic medical records at different sites. Time allocated to research is also limited. In spite of these hurdles, genetic information for half the enrolled patients is already available in the DSD-TRN registry, and early results demonstrate the value of such an infrastructure.
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