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Genome-Wide Association Study (GWAS)

Definition
AI-generated

A genome-wide association study (GWAS) tests genetic variants across the genome for association with a trait or disease in a population sample.

Topics
GWAS
Related
Allele Ancestry Case-Control Study

Why it matters in GWAS

GWAS is the core study design used to discover loci linked to complex traits and diseases.

Example usage

"We performed a GWAS of blood pressure in 350,000 participants and identified 120 significant loci."

Allele Ancestry Case-Control Study Cohort Collider Bias Conditional Association Analysis Expression Quantitative Trait Locus (eQTL) FAIR Principles Gene-Based Test Rare Variant Aggregation Test Genetic Correlation Genetic Heterogeneity Genomic Structural Equation Modeling (Genomic SEM) Genotype Genotype Imputation Genotyping Array Haplotype GWAS Meta-Analysis GWAS Summary Statistics Heritability Human Cell Atlas LD Clumping LD Pruning LD Score Regression Linear Mixed Model (LMM) Linkage Disequilibrium (LD) Large Language Model (LLM) Manhattan Plot Mendelian Randomization (MR) Multi-Trait GWAS Minor Allele Frequency (MAF) Odds Ratio (OR) Omnigenic Model Participation Bias Phenotype Pleiotropy Preregistration Proxy Phenotype PLINK Polygenic Risk Score (PRS) Principal Component Analysis (PCA) Quantile-quantile plot (QQ plot) Quality Control (QC) Single-Cell Expression Quantitative Trait Locus (sc-eQTL) Single-Cell GWAS Integration Single-Cell Sequencing Single Nucleotide Polymorphism (SNP) Trait Trans-Ancestry GWAS Within-Family GWAS
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

  • Uffelmann E, et al. (2021). Genome-wide association studies. Nat Rev Methods Primers. https://doi.org/10.1038/s43586-021-00056-9
  • Visscher PM, et al. (2017). 10 Years of GWAS Discovery. Am J Hum Genet.
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