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Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci

Author(s): Davis Lea K | Gamazon Eric R | Kistner-Griffin Emily | Badner Judith A | Liu Chunyu | Cook Edwin H | Sutcliffe James S | Cox Nancy J

Journal: Molecular Autism
ISSN 2040-2392

Volume: 3;
Issue: 1;
Start page: 3;
Date: 2012;
Original page

Keywords: Autism | annotation | cerebellum | enrichment | expression quantitative trait (eQTL) | GWAS | LCL | pannexin | parietal | SLC25A12

Abstract Background Autism spectrum disorder is a severe early onset neurodevelopmental disorder with high heritability but significant heterogeneity. Traditional genome-wide approaches to test for an association of common variants with autism susceptibility risk have met with limited success. However, novel methods to identify moderate risk alleles in attainable sample sizes are now gaining momentum. Methods In this study, we utilized publically available genome-wide association study data from the Autism Genome Project and annotated the results (P
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