| Title: | Association of loss-of-function variants and incompletely penetrant alleles with UKBB phenotypes |
| Lead Institution: | Broad Institute |
| Principal investigator: | Daniel MacArthur |
Application 42890
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About
Even though we have created genetic data for a very large number of people, we still don't know the clinical effects of most of the genetic differences between people. We propose to investigate the outcomes of two important categories of genetic differences: Loss of function variants - genetic differences predicted to cause a gene to partially or completely stop working; and Incompletely penetrant variants - genetic differences that cause severe diseases in some people, but not in others We propose to spend the next 3 years investigating those two categories of genetic differences in the participants in the UK BioBank. From this, we hope to learn about how possessing a broken copy of a gene affects people and how to predict the odds of getting severe diseases from a person's genetic data. We hope that this will help scientists who want to understand what the functions of genes are, drug developers who want to predict the side effects of the drugs they are developing, and doctors who want to advise people with genetic data on what their odds are of developing diseases.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 5838 | The effect of LRRK2 loss-of-function variants in humans | Nicola Whiffin (+36) | 2020 | Nature Medicine |
Enabling scientific discoveries that improve human health