Evidence map›Paper›PMID 33948580›Full record

ArticleCell reports. Medicine2021

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

Mel Lina Pinsach-Abuin, Bernat Del Olmo, Adrian Pérez-Agustin, Jesus Mates, Catarina Allegue, Anna Iglesias, Qi Ma, Daria Merkurjev, Sergiy Konovalov, Jing Zhang and 8 more

Open access · goldAbstract read
In one paragraph

Article in Cell reports. Medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.4field-weighted citation impact, top 18% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 8 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

18 authors at 5 institutions in 2 countries.

Mel Lina Pinsach-AbuinDepartment of Medical Sciences, School of Medicine, Universitat de Girona, Girona, Spain.
Bernat Del OlmoDepartment of Medical Sciences, School of Medicine, Universitat de Girona, Girona, Spain.
Adrian Pérez-AgustinDepartment of Medical Sciences, School of Medicine, Universitat de Girona, Girona, Spain.
Jesus MatesDepartment of Medical Sciences, School of Medicine, Universitat de Girona, Girona, Spain.
Catarina AllegueDepartment of Medical Sciences, School of Medicine, Universitat de Girona, Girona, Spain.
Anna IglesiasDepartment of Medical Sciences, School of Medicine, Universitat de Girona, Girona, Spain.
Qi MaDepartment of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA.
Daria MerkurjevDepartment of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA.
Sergiy KonovalovDepartment of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA.
Jing ZhangDepartment of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA.
Farah SheikhDepartment of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA.
Amalio TelentiDepartment of Integrative Structural and Computational Biology, The Scripps Research Institute, La Jolla, CA, USA.
Josep BrugadaArrhythmia Unit, Hospital Clinic de Barcelona, Universitat de Barcelona, Barcelona, Spain.
Ramon BrugadaDepartment of Medical Sciences, School of Medicine, Universitat de Girona, Girona, Spain.
Melissa GymrekDepartment of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA.
Julia di IulioDepartment of Integrative Structural and Computational Biology, The Scripps Research Institute, La Jolla, CA, USA.
Ivan Garcia-BassetsDepartment of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA.
Sara PagansDepartment of Medical Sciences, School of Medicine, Universitat de Girona, Girona, Spain.
Universitat de Girona · ESUniversity of California San Diego · USScripps Research Institute · USHospital Clínic de Barcelona · ESUniversity of California, Los Angeles · US

Funding

Uncovering New Functions of CSN6 in Cardiac Desmosomal Biology and DiseaseR01HL142251 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI SHEIKH, FARAH · 2018 to 2021
$1.6M
NHLBI NIH HHS R01 HL142251
6 · The paper itself

Abstract

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 reported or exploited. Here, we interrogate the value of integrating the full set of GWAS hits in a locus repeatedly associated with cardiac conduction traits and arrhythmia,

Indexed as

AdultBrugada SyndromeGenetic Predisposition to DiseaseGenetic TestingGenome-Wide Association StudyGenotypeHaplotypesHumansLinkage DisequilibriumMiddle AgedPhenotypePolymorphism, Single NucleotideQuantitative Trait LociBrugada syndromecommon SNVGWAShaplotype blocklong-read sequencingnon-coding SNVprotective haplotyperisk haplotypeSNV redundancysudden cardiac death

Identifiers

PMID33948580
PMCPMC8080235
OpenAlexW3155432785

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.