Article
A population-based approach for gene prioritization in understanding complex traits.
Human genetics - 1 May 2020
Mezzavilla Massimo, Cocca Massimiliano, Guidolin Francesca, Gasparini Paolo
Abstract excerpt
Gene prioritization is the process of determining which variants and genes identified in genetic analyses are likely to cause a disease or a variation in a phenotype. For many genes, neither in vitro nor in vivo testing is available, thus assessing their pathogenic role could be challenging, leading to false-positive or false-negative results. In this paper, we propose an innovative score of gene prioritization...
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