Article
Prioritizing disease-related rare variants by integrating gene expression data.
PLoS genetics - 1 Sept 2024
Guo Hanmin, Urban Alexander Eckehart, Wong Wing Hung
Abstract excerpt
Rare variants, comprising the vast majority of human genetic variations, are likely to have more deleterious impact in the context of human diseases compared to common variants. Here we present carrier statistic, a statistical framework to prioritize disease-related rare variants by integrating gene expression data. By quantifying the impact of rare variants on gene expression, carrier statistic can prioritize...
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