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Machine Learning and Comorbidity-Based Investigations into the Genetics of Stuttering

dc.contributor.advisorBelow, Jennifer E
dc.creatorShaw, Douglas 2024
dc.description.abstractDevelopmental stuttering is a speech disorder characterized by disruption in the forward movement of speech. This disruption includes part-word and single-syllable repetitions, prolongations, and involuntary tension that blocks syllables and words, and the disorder has a life-time prevalence of 6-12%. Within Vanderbilt's electronic health record (EHR)-linked biorepository (BioVU), only 142 individuals out of 92,762 participants (0.15%) are identified with diagnostic ICD9/10 codes, suggesting a large portion of people who stutter do not have a record of diagnosis within the EHR. To identify individuals affected by stuttering within our EHR, we built a PheCode-driven and genetic risk models to impute the stuttering phenotype in Vanderbilt’s biobank and model phenotypic and genotypic risk in BioVU for the purpose of genetic discovery.
dc.subjectgenetics, stuttering
dc.titleMachine Learning and Comorbidity-Based Investigations into the Genetics of Stuttering
dc.type.materialtext Genetics University Graduate School
dc.contributor.committeeChairSamuels, David

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