rs10464899 - TOX-DT - RNA5SP267

Magnitude 2.2 · 1 study on file

Reported associations

• Phenome risk classification enables phenotypic imputation and gene discovery in developmental stuttering - Unknown journal (n.d.) · Unknown authors · PubMed 34861174

  ABSTRACT: Summary Developmental 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 Gini impurity-based classification and regression tree model, PheML, by using comorbidities enriched in

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