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Article

Multi-omic quantitative trait loci link tandem repeat size variation to gene regulation in human brain.

Nature genetics - 1 Feb 2025

Cui Ya, Arnold Frederick J, Li Jason Sheng, Wu Jie, Wang Dan, Philippe Julien, Colwin Michael R, Michels Sebastian, Chen Chaorong, Sallam Tamer, Thompson Leslie M, La Spada Albert R, Li Wei

Abstract excerpt

Tandem repeat (TR) size variation is implicated in ~50 neurological disorders, yet its impact on gene regulation in the human brain remains largely unknown. In the present study, we quantified the impact of TR size variation on brain gene regulation across distinct molecular phenotypes, based on 4,412 multi-omics samples from 1,597 donors, including 1,586 newly sequenced ones. We identified ~2.2 million TR...

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Source

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Identifiers

PMID: 39809899
DOI: 10.1038/s41588-024-02057-2
PMCID: PMC13007772

Genes

NUDT14
PLEKHA1
TG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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