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Article

High-throughput characterization of functional variants highlights heterogeneity and polygenicity underlying lung cancer susceptibility.

American journal of human genetics - 11 Jul 2024

Long Erping, Patel Harsh, Golden Alyxandra, Antony Michelle, Yin Jinhu, Funderburk Karen, Feng James, Song Lei, Hoskins Jason W, Amundadottir Laufey T, Hung Rayjean J, Amos Christopher I, Shi Jianxin, Rothman Nathaniel, Lan Qing, Choi Jiyeon

Abstract excerpt

Genome-wide association studies (GWASs) have identified numerous lung cancer risk-associated loci. However, decoding molecular mechanisms of these associations is challenging since most of these genetic variants are non-protein-coding with unknown function. Here, we implemented massively parallel reporter assays (MPRAs) to simultaneously measure the allelic transcriptional activity of risk-associated variants. We...

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Identifiers

PMID: 38906146
DOI: 10.1016/j.ajhg.2024.05.021
PMCID: PMC11267514

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