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Systematic prioritization of functional variants and effector genes underlying colorectal cancer risk.

Nature genetics - 1 Oct 2024

Law Philip J, Studd James, Smith James, Vijayakrishnan Jayaram, Harris Bradley T, Mandelia Maria, Mills Charlie, Dunlop Malcolm G, Houlston Richard S

Abstract excerpt

Genome-wide association studies of colorectal cancer (CRC) have identified 170 autosomal risk loci. However, for most of these, the functional variants and their target genes are unknown. Here, we perform statistical fine-mapping incorporating tissue-specific epigenetic annotations and massively parallel reporter assays to systematically prioritize functional variants for each CRC risk locus. We identify...

Topics

Colorectal Neoplasms
Humans
Genome-Wide Association Study
Genetic Predisposition to Disease
Quantitative Trait Loci
Polymorphism, Single Nucleotide
Risk Factors
Epigenesis, Genetic

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PMID: 39284974
DOI: 10.1038/s41588-024-01900-w
PMCID: PMC11525171

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