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Chunk #4 — INTRODUCTION

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Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism.
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We evaluated 460 unrelated affected individuals (including 148 trios) and 1131 control individuals (including 436 trios) using Illumina genome-wide SNP microarrays, paying particular attention to guarding against known confounds in association studies, including population stratification and batch effects (49). Moreover, the study design includes an evaluation of both transmitted and de novo CNVs, providing important opportunities to advance the understanding of the contribution of rare structural variation to this disorder.