Browse Teach Curate

GWAS Summary Statistics: What a Study Publishes per Variant

The output format that makes everything downstream possible. One row per variant carrying effect allele, frequency, β, standard error and p-value is what gets shared instead of individual genomes, and it is the input to LD score regression, to genetic correlation, and to the borrowed African-ancestry pulse-pressure data used later for fine-mapping.

Questions this Concept answers

Why can summary statistics be shared openly when the underlying genotypes usually cannot?

jeremy Video

Using the NHGRI-EBI GWAS Catalog to Explore SNP-Phenotype Associations

Genome-wide association studies (GWAS) are observational designs that detect statistical associations between single-nucleotide polymorphisms (SNPs) and complex traits by comparing allele frequencies…