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GWAS Summary Statistics

Definition
AI-generated

GWAS summary statistics are the per-variant numerical outputs of a genome-wide association analysis—typically variant identifier, genomic position and build, alleles (and strand), effect allele, effect size and standard error, *p*-value, test statistic, allele frequency, and effective sample size—without sharing individual-level genotypes or phenotypes.

Topics
GWAS
Related
Fine-Mapping from Summary Statistics Allele Effect Allele

Why it matters in GWAS

Summary statistics enable meta-analysis across cohorts, polygenic scores, LD score regression, Mendelian randomization, and colocalization without centralizing raw data, provided alleles and builds are harmonized.

Example usage

"The methods explicitly include GWAS Summary Statistics in the end-to-end analysis workflow."

Fine-Mapping from Summary Statistics Allele Effect Allele Genome-Wide Association Study (GWAS) GWAS Meta-Analysis LD Clumping LD Score Regression Liftover Mendelian Randomization (MR) Polygenic Risk Score (PRS) PRS Base Cohort PRS Target Cohort
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Choi SW, Mak TSH, O'Reilly PF. (2020). Tutorial: a guide to performing polygenic risk score analyses. Nat Protoc. https://doi.org/10.1038/s41596-020-0353-1
  • Uffelmann E, et al. (2021). Genome-wide association studies. Nat Rev Methods Primers. https://doi.org/10.1038/s43586-021-00056-9
  • Lyon MS, et al. (2021). The variant call format provides efficient and robust storage of GWAS summary statistics. Genome Biol.
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