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

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

Summary: 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....

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Bibliographic Details
Main Authors: Mel·lina Pinsach-Abuin, Bernat del Olmo, Adrian Pérez-Agustin, Jesus Mates, Catarina Allegue, Anna Iglesias, Qi Ma, Daria Merkurjev, Sergiy Konovalov, Jing Zhang, Farah Sheikh, Amalio Telenti, Josep Brugada, Ramon Brugada, Melissa Gymrek, Julia di Iulio, Ivan Garcia-Bassets, Sara Pagans
Format: Article
Language:English
Published: Elsevier 2021-04-01
Series:Cell Reports Medicine
Subjects:
GWAS
haplotype block
common SNV
non-coding SNV
SNV redundancy
risk haplotype
Online Access:http://www.sciencedirect.com/science/article/pii/S2666379121000665

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http://www.sciencedirect.com/science/article/pii/S2666379121000665

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