Article

Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability

2025-10-07

Abstract excerpt

Historically defined as non–functional copies of coding genes, pseudogenes are an abundant yet underexplored element in the human genome, despite growing evidence linking them to human diseases. From a genome wide screen, we identified 411 gene/pseudogene pairs located in opposite orientation, an arrangement which is permissive for the occurrence of inversions, including 46 genes already associated with human dise...

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Literature Corpus work: ba8396e1-34cc-5958-80dc-996570b78ee6
DOI: 10.1101/2025.10.01.25336578

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