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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)
GGCCAGCTGGACGAGG
GGCCAGCTGGAT GAGG
- log10 (pvalue)
200-
100 -
50
20
10
5
2
4
102.2
5
102.4
6
FL2013
7
102.6
8
9
GAMI+
MAL
10
Cases
11 12
11123923
SLOGA
LIMA
MA4772
14
SLOBA
103:2
16
THEMI
103.4
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