Article

A consensus variant-to-function score to functionally prioritize variants for disease

2024-11-09

Abstract excerpt

Identifying and functionally characterizing causal disease variants in genome-wide association studies remains a pressing challenge. Here, we construct a consensus variant-to-function (cV2F) score that assigns a single value to each common single-nucleotide variant in the genome, and helps to predict and characterize causal disease variants. The cV2F score leverages features reflecting variant-level experimentally...

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Literature Corpus work: cac8d93a-a880-535d-a9f3-4811120ed15f
DOI: 10.1101/2024.11.07.622307

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