| Title: | Copy number variation from whole exome sequencing in the UK Biobank |
| Lead Institution: | European Bioinformatics Institute (EBI) |
| Principal investigator: | Dr Tomas Fitzgerald |
Application 49978
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About
Copy number variation (CNV) is an important source of genetic differences between individuals and can give raise to observable traits. Certain CNVs are known to cause extreme traits in human and can be the direct cause of a number of severe illnesses. In this project we aim to make use of next generation sequencing datasets across a large UK cohort, to create detailed CNV maps, and to perform robust association testing of copy number variable regions against human phenotypic measurements with a particular focus on brain structure and function.3 Publications
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 14234 | Autoencoder-based phenotyping of ophthalmic images highlights genetic loci influencing retinal morphology and provides informative biomarkers | Panagiotis I Sergouniotis (+82) | 2024 | Bioinformatics |
| 7072 | CNest: A novel copy number association discovery method uncovers 862 new associations from 200,629 whole-exome sequence datasets in the UK Biobank | Tomas Fitzgerald (+1) | 2022 | Cell Genomics |
| 16980 | Pigmentation and Retinal Pigment Epithelium Thickness: A Study of the Phenotypic and Genotypic Relationships Between Ocular and Extraocular Pigmented Tissues | Thomas H Julian (+4) | 2025 | Pigment Cell & Melanoma Research |
Enabling scientific discoveries that improve human health