Article
Misexpression of inactive genes in whole blood is associated with nearby rare structural variants.
American journal of human genetics - 8 Aug 2024
Vanderstichele Thomas, Burnham Katie L, de Klein Niek, Tardaguila Manuel, Howell Brittany, Walter Klaudia, Kundu Kousik, Koeppel Jonas, Lee Wanseon, Tokolyi Alex, Persyn Elodie, Nath Artika P, Marten Jonathan, Petrovski Slavé, Roberts David J, Di Angelantonio Emanuele, Danesh John, Berton Alix, Platt Adam, Butterworth Adam S, Soranzo Nicole, Parts Leopold, Inouye Michael, Paul Dirk S, Davenport Emma E
Abstract excerpt
Gene misexpression is the aberrant transcription of a gene in a context where it is usually inactive. Despite its known pathological consequences in specific rare diseases, we have a limited understanding of its wider prevalence and mechanisms in humans. To address this, we analyzed gene misexpression in 4,568 whole-blood bulk RNA sequencing samples from INTERVAL study blood donors. We found that while individual...
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