Article

Disease-specific prioritization of non-coding GWAS variants based on chromatin accessibility

2023-10-18

Abstract excerpt

Non-protein-coding genetic variants are a major driver of the genetic risk for human disease; however, identifying which non-coding variants contribute to which diseases, and their mechanisms, remains challenging. In-silico variant prioritization methods quantify a variant’s severity in the context of having a phenotypic effect; but for most methods the specific phenotype and disease context of the prediction are...

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Literature Corpus work: fde4158d-33c4-5da1-9f8a-909c3b84f569
DOI: 10.1101/2023.10.17.23297164

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