Article
A framework for pathway knowledge driven prioritization in genome-wide association studies.
Genetic epidemiology - 1 Nov 2020
Biswas Shrayashi, Pal Soumen, Majumder Partha P, Bhattacharjee Samsiddhi
Abstract excerpt
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...
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