Transcriptomic signatures of rare variant impacts across sex and the X chromosome.

ABSTRACT: The human X chromosome contains hundreds of genes and has well-established impacts on sex differences and traits. However, the X chromosome is often excluded from many genetic analyses, limiting broader understanding of variant effects. In particular, the functional impact of rare variants on the X chromosome is understudied. To investigate functional rare variants on the X chromosome, we use observations of outlier gene expression from Genotype Tissue Expression consortium data. We show that outlier genes are enriched for having nearby rare variants on the X chromosome, and this enrichment is stronger for males. Using the RIVER model, we identified 733 rare variants in 450 genes predicted to have functional differences between males and females. We examined the pharmacogenetic implication

SUBMITTER: Ungar RA 

PROVIDER: S-EPMC12214130 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature