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Chunk #1 — Method — Phenotypes

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Rare nonsynonymous exonic variants in addiction and behavioral disinhibition.
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yes

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Phenotypes were composite measures derived from factor analysis and factor score extraction of questionnaire and diagnostic symptom data of substance use, substance use disorders, and behavioral disinhibition. An extensive description of the composites and constituent measures has been provided elsewhere(7). Please see Table S1 in Supplement 1 for information on the constituent measures used to create these phenotype composites. Substance use and symptoms of substance use disorders were assessed, through in-person clinical interview with trained interviewers, using an expanded version of the Substance Abuse Module(27)of the Composite International Diagnostic Interview(28). The nicotine dependence composite included frequency (days per month), quantity (cigarettes per day), and DSM symptoms of dependence. Alcohol consumption included frequency (never to multiple times a day), maximum consumption (number of drinks in 24 hours), and lifetime intoxications. Alcohol dependence included abuse and dependence symptoms from multiple diagnostic systems organized into facets of social and occupational problems (e.g., drinking and driving), withdrawal and tolerance, and compulsive use and impairment in major life activities (e.g., drinking throughout the day; wanted to stop but couldn’t). Illicit drug use included frequency of