Statistical and Computational Methods to Dissect Ancestry-Biased Germline Effects in Lung Cancer

Lung cancer is a complex disease influenced by a variety of genetic and environmental factors. The germline mutations associated with the disease vary greatly between the East Asian and the European populations. We explore these differences by analyzing genome-wide association study summary statisti...

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Bibliographic Details
Main Author: Ismoldayeva, Assel
Other Authors: Kellis, Manolis
Format: Thesis
Published: Massachusetts Institute of Technology 2023
Online Access:https://hdl.handle.net/1721.1/150306
Description
Summary:Lung cancer is a complex disease influenced by a variety of genetic and environmental factors. The germline mutations associated with the disease vary greatly between the East Asian and the European populations. We explore these differences by analyzing genome-wide association study summary statistics from European and Japanese biobanks. Using stratified linkage disequilibrium regression in conjunction wit gene expression-based and epigenetic annotations, we derive cell-types and biological processes associated with lung cancer and smoking in both populations.