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P183: Genome Sequencing Increases the Diagnostic Yield in Exome-Negative Individuals with Rare Genetic Disorders

Swetha Ramadesikan, Caitlyn Colwell,Mohammad Marhabaie, Leeran Dublin-Ryan,Iftekhar Showpnil, Umamaheswaran Gurusamy,Jesse Hunter, Allison Daley,Elizabeth Varga,Marco Leung,Rolf Stottmann,Bimal Chaudhari,Scott Hickey,Peter White,Daniel Koboldt,Richard Wilson

Genetics in Medicine Open（2024）

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Exome Sequencing

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