Scan many genomes for variants statistically linked to a trait or disease.
GWAS compare allele frequencies at hundreds of thousands to millions of SNPs between cases and controls. Statistical thresholds are strict (p < 5×10^-8) to avoid false positives. Hits are usually in non-coding regions and each has small effect.
Polygenic risk scores combine many variants.
Scan many genomes for variants statistically linked to a trait or disease.
Genome-Wide Association Studies is one of the 54 topics in Genetics. It is rated Advanced, so it suits learners who want specialist depth. Related topics in this area include Quantitative Trait Loci, Polygenic Inheritance, Genetic Drift.
GWAS identified the complement factor H variant in age-related macular degeneration.
Work through the Beginner topics in Genetics first, such as Heredity, Gene, Allele, then return to Genome-Wide Association Studies. Advanced topics assume the Intermediate vocabulary.
The closest topics to Genome-Wide Association Studies are Quantitative Trait Loci, Polygenic Inheritance, Genetic Drift, Homozygous and Heterozygous. Comparing them side by side is a good way to see how the ideas connect.
Read the summary and the in-depth section, then use the quick check on the interactive lesson for Genome-Wide Association Studies. To practise the whole of Genetics, use the Genetics quiz.
Genome-Wide Association Studies: Scan many genomes for variants statistically linked to a trait or disease. Quantitative Trait Loci: Regions of the genome statistically associated with variation in continuous traits. Read both side by side and note what each one explains.
First, read the summary and write the definition in your own words. Second, read the in-depth section and note any example. Third, compare it with Quantitative Trait Loci and explain the difference aloud. Finally, take the Genetics quiz and come back to this page for any question you miss.
Regions of the genome statistically associated with variation in continuous traits.
🧬 GeneticsA trait controlled by many genes producing continuous variation, such as height and skin colour.
🧬 GeneticsRandom changes in allele frequency that have strong effects in small populations, including the founder effect and bottleneck.
🧬 GeneticsHomozygous means two identical alleles for a gene; heterozygous means two different alleles.
🧬 Genetics