Additional file 3: Table S3a. of High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder

According to Pathway Studio. Table S3b. According to DAVID. (PDF 115 kb

Additional file 2: Table S2a. of High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder

Rare CNVs discovered in the paediatric obsessive compulsive disorder (OCD) patients; and inheritance pattern in cases with available parents. Table S2b. Rare CNVs discovered in the population control cohort. (PDF 236 kb

Additional file 4: Table S4. of High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder

(a) CNV burden analysis results from PLINK. The p-values shown are for the GCNT test statistic from PLINK’s cnv-enrichment-test algorithm, applied to the particular gene list versus the entire genome. Although Brain expressed and ID genes resulted in p values below 0.05, only the brain-expressed genes list remains significantly enriched in CNVs after correction for multiple testing (6 tests). (b) CNV burden analysis results from PLINK. The Gene List used. (PDF 1722 kb

Additional file 1: Table S1. of High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder

Comorbidities according to ICD-10 of the pediatric OCD cohort. (DOCX 13 kb

Summary phenotype of patients with identified CNVs.

<p>Summary phenotype of patients with identified CNVs.</p

CNV discovery and characterization.

<p>Molecular karyotyping was performed for 200 patients with short stature after thorough clinical evaluation and for 820 healthy control samples. Exclusion of common variants using the control samples and scoring CNVs above 50 kb resulted in an approx. reduction of 80% of the CNVs identified in the patient samples. 60.5% of these CNVs affect reference sequence gene regions. Functional characterization includes segregation analysis using parental arrays and/or MLPA as well as gene and CNV based evaluation.</p

Lines of Evidence.

1<p>Known short stature causing genes.</p>2<p>MD = Microdeletion/Microduplication syndromes;</p>3<p>Details in <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1003365#pgen.1003365.s007" target="_blank">Table S3</a>;</p>4<p># of genes expressed in relevant growth tissues (bone, cartilage) according to GEPIS-tissue;</p>5<p>Patients in Decipher with overlapping CNVs and short stature;</p>6<p># of genes with short stature in the mouse model,</p>7<p>min p-value in GIANT association study;</p>8<p># of genes with Haploinsufficiency score<10%.</p