Article
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.
Nature genetics - 1 Nov 2024
Jadhav Bharati, Garg Paras, van Vugt Joke J F A, Ibanez Kristina, Gagliardi Delia, Lee William, Shadrina Mariya, Mokveld Tom, Dolzhenko Egor, Martin-Trujillo Alejandro, Gies Scott J, Altman Gabrielle, Rocca Clarissa, Barbosa Mafalda, Jain Miten, Lahiri Nayana, Lachlan Katherine, Houlden Henry, Paten Benedict, Veldink Jan, Tucci Arianna, Sharp Andrew J
Abstract excerpt
GC-rich tandem repeat expansions (TREs) are often associated with DNA methylation, gene silencing and folate-sensitive fragile sites, and underlie several congenital and late-onset disorders. Through a combination of DNA-methylation profiling and tandem repeat genotyping, we identified 24 methylated TREs and investigated their effects on human traits using phenome-wide association studies in 168,641 individuals...
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