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Approved Research

Highly accurate whole genome imputation for use in massive genome wide association studies

Principal Investigator: Dr Jared O'Connell
Approved Research ID: 91775
Approval date: August 25th 2022

Lay summary

Genome-wide association studies (GWAS) aim to find the parts of our DNA that are associated with traits such as height, or weight, or associated with different diseases. 23andMe's GWAS use a cost effective technology called "genotyping microarrays" that do not examine the entire genome, but rather look at a subset containing hundreds of thousands of mutations. We can affordably expand the number of genetic mutations we study by using another step called,  "genotype imputation."  Genotype imputation is the process of inferring DNA for areas in the genome not covered by genotyping microarrays. By using whole-genome sequenced reference data - in this case UKBB Whole Genome Sequence data - we can predict, or impute, the missing letters of genetic data. This will greatly improve our ability to analyze 23andMe's massive GWAS database. Improving imputation, and hence GWAS, may lead to new genetic discoveries which can be used to develop new treatments and improve the prediction of disease risk.