A framework for pathway knowledge driven prioritization in genome-wide association studies.

ABSTRACT: Many variants with low frequencies or with low to modest effects likely remain unidentified in genome-wide association studies (GWAS) because of stringent genome-wide thresholds for detection. To improve the power of detection, variant prioritization based on their functional annotations and epigenetic landmarks has been used successfully. Here, we propose a novel method of prioritization of a GWAS by exploiting gene-level knowledge (e.g., annotations to pathways and ontologies) and show that it further improves power. Often, disease associated variants are found near genes that are coinvolved in specific biological pathways relevant to disease process. Utilization of this knowledge to conduct a prioritized scan increases the power to detect loci that map to genes clustered in a few specif

SUBMITTER: Biswas S 

PROVIDER: S-EPMC7116354 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature