Network propagation of rare variants in Alzheimer's disease reveals tissue-specific hub genes and communities.

ABSTRACT: State-of-the-art rare variant association testing methods aggregate the contribution of rare variants in biologically relevant genomic regions to boost statistical power. However, testing single genes separately does not consider the complex interaction landscape of genes, nor the downstream effects of non-synonymous variants on protein structure and function. Here we present the NETwork Propagation-based Assessment of Genetic Events (NETPAGE), an integrative approach aimed at investigating the biological pathways through which rare variation results in complex disease phenotypes. We applied NETPAGE to sporadic, late-onset Alzheimer's disease (AD), using whole-genome sequencing from the AD Neuroimaging Initiative (ADNI) cohort, as well as whole-exome sequencing from the AD Sequencing Proje

SUBMITTER: Scelsi MA 

PROVIDER: S-EPMC7817020 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature