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Genome-Wide Association Studies (GWAS) GWAS is a statistical analysis of Single Nucleotide Polymorphisms (SNPs), looking To identify differences in frequency between disease cases and controls. SNPs linked with disease will be found at different frequencies in cases versus controls. Association is represented by the level of statistical significance (p-value) of the SNP frequency difference. SNPs can be tested across the genome and mapped to specific regions. Single Nucleotide Polymorphism (SNP) GGCCAGCTGGAGGAGG GGCCAGCTGGAT GAGG -logo(pvalue) 200- 100- 50 20 10 5 2 JEFEEY 1822 6 7 HILA 8 9 Cases 10 11 12 111123 A 14 16 18 20 22 X Copyright © 2022 23and Me, Inc. Controls 23andMe 29

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