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Integrating functional scoring and regulatory data to predict the effect of non-coding SNPs in a complex neurological disease.

Briefings in functional genomics - 20 Mar 2024

Felício Daniela, Alves-Ferreira Miguel, Santos Mariana, Quintas Marlene, Lopes Alexandra M, Lemos Carolina, Pinto Nádia, Martins Sandra

Abstract excerpt

Most SNPs associated with complex diseases seem to lie in non-coding regions of the genome; however, their contribution to gene expression and disease phenotype remains poorly understood. Here, we established a workflow to provide assistance in prioritising the functional relevance of non-coding SNPs of candidate genes as susceptibility loci in polygenic neurological disorders. To illustrate the applicability of...

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PMID: 37254524
DOI: 10.1093/bfgp/elad020

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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