| Title: | Association studies of tandemly repeated sequences in the UK Biobank |
| Lead Institution: | Icahn School of Medicine at Mount Sinai |
| Principal investigator: | Dr Andrew Sharp |
Application 82094
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About
Contrary to the commonly held belief that humans carry two copies of each gene, the human genome actually contains many coding regions and entire genes that occur in multiple copies. These "multicopy genes" have been largely ignored by most genetic studies, in part because they are inherently very difficult to study. However, they also often vary in copy number between different people, and this copy number variation can alter genetic risks for disease. We have developed new methods to study these multicopy genes. Here, we propose to investigate how people that carry different numbers of these multicopy genes might influence their risk of getting many different diseases. Over the next 3 years, we hope to identify variation of which multicopy genes modify our disease risks, which we hope will lead to new insights a drug targets that might ultimately improve human health.2 Publications
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 14686 | A Population-Wide Exploration of the THAP11 CAG Repeat Size and Structure in the 100,000 Genomes Project and UK Biobank | Chris Clarkson (+8) | 2024 | Movement Disorders |
| 14064 | A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank | Celine A. Manigbas (+7) | 2024 | Nature Communications |
Enabling scientific discoveries that improve human health