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ZENODO
Dataset . 2025
License: CC BY
Data sources: Datacite
ZENODO
Dataset . 2025
License: CC BY
Data sources: Datacite
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SAIGE-QTL: Single-nucleus Expression QTL Summary Statistics using Human Brain Cohort

Authors: Jang, Beomjin; Hong, Won Hee; Raj, Towfique;

SAIGE-QTL: Single-nucleus Expression QTL Summary Statistics using Human Brain Cohort

Abstract

https://github.com/RajLabMSSM/SingleBrain Full associations and top association summary statistics for cis-eQTLs mapped in the human brain single-nucleus RNA seq cohort(Fujita et al.[PMID: 38514782]) using SAIGE-QTL[PMID: 38798318], as part of the "SingleBrain" project. Sample size = 402 European ancestry donors. 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 were tested for genetic association: Ast: astrocytes End: endothelial cells Ext: excitatory neurons IN: inhibitory neurons MG: microglia OD: oligodendrocytes OPC: oligodendrocyte progenitor cell 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 (ACAT_P) 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 ACAT_P column in the top associations. feature: the phenotype being tested CHR: chromosome POS: position (hg38) MarkerID: the genetic variant being tested Allele1: reference allele Allele2: alternate allele AC_Allele2: Alternate allele count AF_Allele2: Alternate allele frequency in the sample MissingRate: genotype missing rate BETA: Effect size estimate (per allele effect) SE: Standard error of beta Tstat: T-statistic for the effect size var: Variance of the score test statistic p.value: P-value p.value.NA: P-value computed using a normal approximation (Wald or score test), not SPA. Is.SPA: Whether the Saddlepoint Approximation (SPA) converged (TRUE/FALSE) N: Sample size used in the test p_bonf: P-value adjusted for the number of variants tested in that feature (Bonferroni) p_FDR: P-value adjusted for the number of variants tested in that feature (FDR) ACAT_P: Aggregated Cauchy Association Test (ACAT) p-value, which is a gene-level p-value combining multiple single-variant p-values for a given gene or region.

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
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