23andMe Investor Day Presentation Deck
The Vast Majority of GWAS Discoveries Can
be Made Without Large-scale Sequencing
Nearby genetic variants are correlated with each other. Knowing
the variants one position allows the nearby variants to be inferred.
E.g. Fill in the blanks:
The q***k brown f*x jumps ov*r the **zy dog.
The same principle applies in genetics. The process of filling in
the gaps is known as 'genotype imputation'.
●
We type ~650,000 SNPs using our genotyping array, which
allows accurate imputation for >35m SNPs in the genome.
>> Genotype imputation is much more cost effective than large-
scale sequencing.
●
Whole-genome sequencing ~$1000 / sample.
Exome sequencing -$400 / sample.
Imputation < $0.01/ sample
We do deploy sequencing in situations where there is a clear
benefit over and above imputation (e.g. rare disease).
Genotyped Samples
2
2
2? 2
0 1?2?2?011? ? 2 0
1?2?1?1? 120 ? ? 2?0
27272727121 27 0
12 12 12 11 ??? 2?0
02272222021? ? 2 1
2 2 1? 1
2
1
1
1?0?0
2
0
-logrolp-value)
-logrolp-value)
20
15
10
0
20-
15
o
176.3
0
0 000
88%
176.4
O
Reference Genomes
0 0 1 0 1 1 1 0 0 1 1 1 1 1 1 0
1 1 1 1 1 1 1 0 0 1 0 0 1 1 1 0
1 1 1 1 1 0 1 0 0 1 0 0 0 1 0 1
0 000 1 1 0 0 1 1 1 1 1 1 0
1 1 1 0 1 1 0 0 1 1 1 0 1 1 1 0
0010111001 11110
1 1 1 1 1 0 1 0 0 1 0 0 0 1 0 1
11000 100
1 1 0 1 1 1 0
Imputation Process
0?1?1?1? 01 ? ? 1? 0
1?1?1?1? 011? ?1? 0
rs2011077
176.5
1?1?1?1? 010?? 1? 0
1?1?1?1? 1 1 1? ?1? 0
1? 0?0?0?111 ??1? 0
0?1? 0?0? 1 1 1? ?1? 0
0080
o
rs 1966265
*4
%0°
DO O
176.6 176.7
Position on chr5 (Mb)
176.8
Copyright © 2022 23andMe, Inc.
Imputed Samples
1
2 0
1 2 200
2 1
112220011 2 0
11201110120122 0
22222120121122 0
1110121012212220
0121212002111211
0
022
2 2 111
121 0 0 2 2 2
177
2
2
Before
imputation
After
imputation
23andMe®
1
0
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