23andMe Investor Day Presentation Deck
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)
GGCCAGCTGGACGAGG
GGCCAGCTGGATGAGG
- log10 (pvalue)
200
100-
50
8
20
10
5
2
1
2
3
4
10-
102.2
5
102.4
6
FL120079
7
AIR
102.6
8
9
LIRI
AMAL
102.8
Cases
10 11 12
ns11123823
GALE
SLOBAL
LA
14
SLOBA
103.2
16
MESIDE
THEMI
103.4
80
18 20 22 X
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