Additional file 1: Table S1. of Limited survivability of unbalanced progeny of carriers of a unique t(4;19)(p15.32;p13.3): a study in multiple generations

Phenotype characteristics of two children with monosomy of 4p15.32→pter together with trisomy 19p13.3→pter compared with three children with the pure monosomy 4p15.32 →pter (Iwanowski et al. [2]) and two children with the pure trisomy 19p13.3→pter (Andries et al. [7], Ishikawa et al. [8]). (DOC 177 kb

Transmission disequilibrium analysis for <i>IL12RB, ANXA11, VTCN1</i> and <i>LPP</i> gene SNPs in 265 family trios (T:U – copies of the minor allele transmitted (T) and untransmitted (U) from heterozygous parents to affected offspring<i>).</i>

*<p>Nominal p values are shown uncorrected for multiple testing. The Bonferroni-corrected significance threshold is p = 0.0125.</p

Quantitative transmission disequilibrium analysis (Abecasis’s orthogonal test) in 262 family trios with age of T1DM onset as a quantitative variable.

*<p>Nominal p values are shown uncorrected for multiple testing. The Bonferroni-corrected significance threshold was p = 0.0125.</p>**<p>Empirical p-values were obtained using 10000 Monte Carlo permutations. Empirical significance threshold of 0.05 corresponded to a p-value of <0.0128.</p

Additional file 1: of Genome-wide meta-analysis identifies novel loci associated with parathyroid hormone level

Supporting Information. (XLSX 54 kb

Additional file 1 of Multi-omics and pathway analyses of genome-wide associations implicate regulation and immunity in verbal declarative memory performance

Additional file 1: Supplemental Text. Table S1. Sample size and the number of SNPs in the paragraph delayed recall GWAS from each discovery and replication cohort. Table S2. Sample size and the number of SNPs in the word list delayed recall GWAS from each discovery and replication cohort. Table S3. Tissue-specific relationships between delayed recall test (PAR-dr and WL-dr) summary SNP associations and eQTLs and meQTLs. Table S4. Relationship Between Delayed Recall Summary Gene Associations and Transcription Factor Genes. Table S5. Significant Genes Associated with Paragraph Delayed Recall (PAR-dr) and Word List Delayed Recall (WL-dr). Table S6. Significant component genes in the six memory-associated pathways. Table S7. Homologous genes in memory-associated pathways for differential expression analysis. Figure S1. GWAS cohorts and microarray expression datasets. Figure S2. Design of the pathway analyses. Figure S3. Forest plots of significant pathway enrichment effects and p-values from discovery cohorts (Approach 1)

Global meta-analysis results for the rs9939609 <i>FTO</i> SNP.

<p>EA - effect allele; EAF - effect allele frequency; SE - standard error; P - p-value; I²- measure of heterogeneity; N - total number of samples.</p

Contributing studies and sample characteristics.

<p>Contributing studies and sample characteristics.</p

Global meta-analysis results with p≤0.001.

<p>EA - effect allele; EAF - effect allele frequency; SE - standard error; P - p-value; I²- measure of heterogeneity; N - total number of samples.</p

Manhattan and QQ plots based on meta-analyses results of the discovery panel: a) combined set - age adjusted, b) combined set - age and BMI adjusted.

<p>Manhattan and QQ plots based on meta-analyses results of the discovery panel: a) combined set - age adjusted, b) combined set - age and BMI adjusted.</p

Study design. Each step includes non-overlapping, independent datasets.

<p>Study design. Each step includes non-overlapping, independent datasets.</p