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1,275 ASD cases, 1,981 controls

1,275 ASD cases, 1,981 controls. Genotyped using Illumina 1M. QC + CNV calling (iPattern + QuantiSNP). As described in Pinto et al 2010. Filter out: i) low confidence CNVs (only 1 algorithm, <30kb, <5 probes) ii) non-Caucasian samples iii) common CNVs (>1%). 2382 rare CNVs in 996 cases

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1,275 ASD cases, 1,981 controls

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  1. 1,275 ASD cases, 1,981 controls Genotyped using Illumina 1M QC + CNV calling (iPattern + QuantiSNP) As described in Pinto et al 2010 Filter out: i) low confidence CNVs (only 1 algorithm, <30kb, <5 probes) ii) non-Caucasian samples iii) common CNVs (>1%) 2382 rare CNVs in 996 cases 3096 rare CNVs in 1287 controls Filter for CNVs that disrupt two different genes on same chromosome strand Genomewide burden for putative CNVs that have potential to lead to fusion-transcripts Case-control Candidates genes Cell availability (IMGSAC samples) Described here Genomic mapping (qPCR, LR-PCR, Sanger) Testing for fusion-transcripts using RT-PCR + Sanger sequencing Confirmation that 5’ gene is active in cell lines

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