Additional file 3: of Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants

Table S1. Demographic information for heterogeneous ASD cases and age- and sex-matched neurotypical controls. Table S2. Number of probes removed and remaining for analysis following quality control. Table S3. List of overlapping DMRs for 16p11.2del. Table S4. List of overlapping DMRs for CHD8+/−. Table S5. List of samples extracted from GEO database and respective 16p11.2del and CHD8+/− signature scores for specificity analysis. All sample data are from blood and from individuals with known ages < 50 years old. Table S6. List of significant (q < 0.05, |Δβ| ≥ 5%) sites in 16p11.2del DNAm signature. Table S7. List of significant (q < 0.05, |Δβ| ≥ 5%) sites in CHD8+/− DNAm signature. Table S8. GO Biological Process enrichment terms following GREAT enrichment analysis of differentially methylated genes in 16p11.2del DNAm signature. Table S9. GO Biological Process enrichment terms following GREAT enrichment analysis of differentially methylated genes in CHD8+/− DNAm signature. (XLSX 156 kb)

表S1 异质性自闭症谱系障碍（Autism Spectrum Disorder, ASD）病例及年龄、性别匹配的神经典型对照个体的人口统计学信息。
表S2 质量控制后移除与剩余、用于后续分析的探针数量。
表S3 16p11.2缺失（16p11.2del）相关的重叠差异甲基化区域（Differentially Methylated Regions, DMRs）列表。
表S4 CHD8杂合缺失（CHD8+/−）相关的重叠差异甲基化区域列表。
表S5 从GEO数据库（Gene Expression Omnibus）中提取的样本列表，以及用于特异性分析的对应16p11.2缺失与CHD8杂合缺失特征评分。所有样本数据均采集自外周血，供者已知年龄均小于50岁。
表S6 16p11.2缺失DNA甲基化（DNA methylation, DNAm）特征中满足q < 0.05且|Δβ| ≥ 5%的显著位点列表。
表S7 CHD8杂合缺失DNA甲基化特征中满足q < 0.05且|Δβ| ≥ 5%的显著位点列表。
表S8 针对16p11.2缺失DNA甲基化特征中的差异甲基化基因开展GREAT富集分析后得到的基因本体论（Gene Ontology, GO）生物学过程富集术语。
表S9 针对CHD8杂合缺失DNA甲基化特征中的差异甲基化基因开展GREAT富集分析后得到的基因本体论生物学过程富集术语。
（XLSX 156 KB）