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Article

A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank.

Nature communications - 3 Dec 2024

Manigbas Celine A, Jadhav Bharati, Garg Paras, Shadrina Mariya, Lee William, Altman Gabrielle, Martin-Trujillo Alejandro, Sharp Andrew J

Abstract excerpt

Most genetic association studies focus on binary variants. To identify the effects of multi-allelic variation of tandem repeats (TRs) on human traits, we perform direct TR genotyping and phenome-wide association studies in 168,554 individuals from the UK Biobank, identifying 47 TRs showing fine-mapped associations with 73 traits. We replicate 23 of 31 (74%) of these associations in the All of Us cohort. While...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39627187
DOI: 10.1038/s41467-024-54678-0
PMCID: PMC11614882

Genes

GNB2
HRCT1

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