Article

Prioritizing disease-related rare variants by integrating gene expression data

2024-03-21

Abstract excerpt

Rare variants, comprising a vast majority of human genetic variations, are likely to have more deleterious impact on 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 those rare variants...

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Literature Corpus work: a19d0a81-fb23-576e-adaa-dd7116645dc1
DOI: 10.1101/2024.03.19.585836

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