Approved Research

Integrative analysis of the genetic factors underlying liver cirrhosis

Lay summary

Our study aims to discover and investigate novel genetic variation from the UK-biobank population that is indicative of increased protectivity or sensitivity to liver disease. Due to the considerable number and diversity of individuals in the study, we are very likely to discover new and rare genetic variation that has roles in liver disease. After variant discovery, we will characterize any variation of interest by using existing genomic and metabolomic data from pathways related to genes nearby our newly discovered variants. Finally, all potentially pathogenic genetic variation will be incorporated into a polygenic model of disease. This model will serve as a predictive tool clinicians can use to evaluate the likelihood of different disease courses and make treatment recommendations. In terms of timeline, we aim to perform all QC and variant discovery in the first year of study and integrate the new variants discovered with multi-omics data and publish them by the end of the third year of study.