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EPISODE · Oct 11, 2022 · 59 MIN

Dr. Orion Buske and PhenoTips Experts on Building Integrated Workflows for Rare Disease Diagnosis

from PhenoTips Speaker Series: A Genetics Podcast

Leader in the development of interoperability standards and PhenoTips CEO, Dr. Orion Buske, and PhenoTips' Interoperability Specialist, Charles Keenan, discuss the ways in which PhenoTips is helping rare disease networks with the adoption of interoperability standards to integrate workflows, the role of interoperable data in improving diagnostic outcomes, the application of structured pedigree and phenotypic data in diagnosis, and recent rare disease projects across the US, UK, and Canada. Hosted by DNA Today's Kira Dineen.

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Dr. Orion Buske and PhenoTips Experts on Building Integrated Workflows for Rare Disease Diagnosis

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