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    P639: Excavator: Removing the noise in exome analysis using machine learning

    P639: Excavator: Removing the noise in exome analysis using machine learning by Brett Deml, Lexie Lobo, Becky Milewski, Benjamin Bluhm, Luke Drury

    Published 2025-01-01
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    P732: Identification of pathogenic expansions within FXN in individuals with suspected Friedreich ataxia diagnoses

    P732: Identification of pathogenic expansions within FXN in individuals with suspected Friedreich ataxia diagnoses by Kaitlynne Bohm, Erin Sybouts, Carmen Noller, Ben Sullivan, Erik Strandberg, Luke Drury, Jim McKay, Rachel Clark

    Published 2025-01-01
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