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Article

Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants.

Cell reports. Medicine - 20 Apr 2021

Pinsach-Abuin Mel Lina, Del Olmo Bernat, Pérez-Agustin Adrian, Mates Jesus, Allegue Catarina, Iglesias Anna, Ma Qi, Merkurjev Daria, Konovalov Sergiy, Zhang Jing, Sheikh Farah, Telenti Amalio, Brugada Josep, Brugada Ramon, Gymrek Melissa, di Iulio Julia, Garcia-Bassets Ivan, Pagans Sara

Abstract excerpt

Genome-wide association studies (GWASs) are instrumental in identifying loci harboring common single-nucleotide variants (SNVs) that affect human traits and diseases. GWAS hits emerge in clusters, but the focus is often on the most significant hit in each trait- or disease-associated locus. The remaining hits represent SNVs in linkage disequilibrium (LD) and are considered redundant and thus frequently marginally...

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Identifiers

PMID: 33948580
DOI: 10.1016/j.xcrm.2021.100250
PMCID: PMC8080235

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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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