Article

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in<i>AFF3</i>as a significant cause of intellectual disability

2023-05-05

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 PheWAS in 168,641 individuals from the UK Biobank, identify...

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Literature Corpus work: 2284a6e0-483b-51db-84b8-f601a250bf95
DOI: 10.1101/2023.05.03.23289461

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