PMC:4067558 / 9534-10159 JSONTXT

{"project":"2_test","denotations":[{"id":"24768552-20531469-2047099","span":{"begin":85,"end":87},"obj":"20531469"},{"id":"24768552-21552272-2047099","span":{"begin":85,"end":87},"obj":"21552272"}],"text":"CNVs were detected with our analytical pipeline of Illumina 1M arrays (v.1 and v.3)6,30 and analyzed for case-control differences in burden with PLINK v.1.0730, R stats, and custom scripts. The p values associated with odds ratios (ORs) were calculated with Fisher’s exact test. Rare de novo CNVs, clinically relevant CNVs, and other selected rare CNVs were validated by at least one method (quantitative PCR, MLPA, and/or long-range PCR). Table S4 shows all validated de novo CNVs. A list of CNV calls passing QC in affected subjects, including all experimentally validated CNVs, is available in Tables S17A, S17B, and S17C."}