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Sensitivity, Specificity, Point Prevalence, Base Rate
Sensitivity: probability a person with the disorder tests positive.
Specificity: probability a person without the disorder tests negative.
Point Prevalence: % of people with disorder right now.
Base Rate: overall frequency of disorder in population.
Base rate is crucial: low base rates → more false positives even with good tests.
How Polygenic Scores Work
Add up thousands of genetic variants associated with risk.
Weighted by GWAS effect sizes.
Produces a “risk score” relative to the population distribution.
Predicts likelihood but not destiny.
GWAS: What It Is and How It's Done
Scan genomes of huge samples (100k–1M people).
Identify SNPs more common in people with a trait.
Result: lists of associated variants + polygenic risk estimates.
Requires correction for ancestry and linkage disequilibrium.
DONE
ODNE