| Title: | Stratification of complex phenotypes focusing on Inflammatory Bowel Disease and co-morbidities: trialling novel methods |
| Lead Institution: | University of Southampton |
| Principal investigator: | Professor Sarah Ennis |
Application 72911
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About
Great progress has been made over the last two decades in identifying genes that are involved in complex immune diseases such as inflammatory bowel disease. We now know hundreds of different genes across discrete immune and inflammation pathways that contribute to disease. However, on a case-by-case basis, very little of this information is used to inform patient diagnostics or management. Our study aims to harness the power of the UK BioBank cohort and the whole exome sequencing of its participants to better understand the specific genes causing disease within individual patients. We will apply novel methods that integrate all genetic differences across whole genes in a patient specific manner and examine the relationship with the specific disease symptoms manifesting in individuals. These methods have been developed and tested on our own in-house cohort of over one thousand patients diagnosed with IBD. Our analyses will be strengthened by our ability to independently test findings in both UK BioBank data and our own local IBD cohort of patients with sequencing data.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 16533 | A systematic analysis of contemporary whole exome sequencing capture kits to optimise high-coverage capture of CCDS regions | Fernando Vázquez López (+3) | 2025 | NAR Genomics and Bioinformatics |
Enabling scientific discoveries that improve human health