
https://github.com/RajLabMSSM/SingleBrain Full associations and top association summary statistics for QTLs mapped in a meta-analysis across multiple human brain single-nucleus RNA seq cohorts, as part of the "SingleBrain" project. Sample size = 983 European ancestry donors from 757 unique donors 4 cohorts (Fujita et al., Mathys et al., Bryois et al., Gabitto et al.) meta-analyzed using the linear mixed model random-effects meta-analysis software mmQTL (PMID: 35058635). Each file has the following naming convention: {Cell type}_eqtl_{ASSOC}.tsv.gz References The following reference was used for mapping phenotypes: 1. GENCODE - GENCODE v38 comprehensive transcripts (https://www.gencodegenes.org/human/release_38.html) Cell type The following brain 7 major cell types and 28 subtypes were tested for genetic association: Ast: astrocytes End: endothelial cells Ext: excitatory neurons IN: inhibitory neurons MG: microglia OD: oligodendrocytes OPC: oligodendrocyte progenitor cell Each subtype has numbers appended after cell names. MiGA3: A meta-analysis that integrated data from the isoMiGA(https://zenodo.org/records/8250771) All phenotype matrices were scaled and centered and then quantile normalized. Associations Top associations (top_assoc.tsv.gz) list the SNP-feature pair with the lowest adjusted P-value (qval) for that feature. Full associations (full_assoc.tsv.gz) list all tested SNP-feature pairs. Data dictionary The columns of the two association files only differ by the presence of the qval column in the top associations. feature: the phenotype being tested variant_id: the genetic variant being tested chr: chromosome pos: position (hg38) ref: reference allele alt: alternate allele Allele: the effect allele that the beta is relative to beta_tissue_0: Fujita et al. cohort beta sd_tissue_0: Fujita et al. cohort standard error z_tissue_0: Fujita et al. cohort Z-score beta_tissue_1: Mathys et al. cohort beta sd_tissue_1: Mathys et al. cohort standard error z_tissue_1: Mathys et al. cohort Z-score beta_tissue_2: Gabitto et al. cohort beta sd_tissue_2: Gabitto et al. cohort standard error z_tissue_2: Gabitto et al. cohort Z-score beta_tissue_3: Bryois et al. cohort beta sd_tissue_3: Bryois et al. cohort standard error z_tissue_3: Bryois et al. cohort Z-score fixed_beta: Fixed effect meta-analysis estimate of the beta fixed_sd: Fixed effect meta-analysis standard error of the beta fixed_z: Fixed effect meta-analysis Z-score Random_Z: Random effect meta-analysis Z-score Fixed_P: Fixed effect meta-analysis P-value Random_P: Random effect meta-analysis P-value Fixed_bonf: Fixed effect meta-analysis P-value adjusted for the number of variants tested in that feature (Bonferroni) Random_bonf: Random effect meta-analysis P-value adjusted for the number of variants tested in that feature (Bonferroni) Fixed_FDR: Fixed effect meta-analysis P-value adjusted for the number of variants tested in that feature (FDR) Random_FDR: Random effect meta-analysis P-value adjusted for the number of variants tested in that feature (FDR) qval: Random effect meta-analysis P-value adjusted for the number of variants tested in that feature (FDR) and for the number of features tested in the dataset (Storey's q value)
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