GenoThis gets access to 200,000 whole-exomes

In 2021 we obtained access to 200,000 whole-exomes from the UK Biobank project with their respective phenotypes, including medical records, and biometric data.

We are using the UK Biobank data to predict those individuals with a high risk for common and rare human conditions. We will combine millions of common genetic variants in the form of polygenic scores with rare protein coding variants.

We expect that this research will help us understand why some relatives of patients with mendelian diseases do not get sick despite also carrying the same pathogenic variant as the proband.

Another value of this dataset is the creation of a human knockout database, with those genes that have evidence for tolerating individuals with homozygous PTV.