Cell Type-Specific Annotation and Fine Mapping of Variants Associated With Brain Disorders.

ABSTRACT: Common genetic variants confer susceptibility to a large number of complex brain disorders. Given that such variants predominantly localize in non-coding regions of the human genome, there is a significant challenge to predict and characterize their functional consequences. More importantly, most available computational methods, generally defined as context-free methods, output prediction scores regarding the functionality of genetic variants irrespective of the context, i.e., the tissue or cell-type affected by a disease, limiting the ability to predict the functional consequences of common variants on brain disorders. In this study, we introduce a comparative multi-step pipeline to investigate the relative effectiveness of context-specific and context-free approaches to prioritize diseas

SUBMITTER: Doostparast Torshizi A 

PROVIDER: S-EPMC7744805 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature