Evidence map›Paper›PMID 42100464›Full record

ArticleGenetics in medicine open2026

Evidence of variations in genetic prevalence for loss-of-function

Alexandra Winters, Renae Judy, Choudhary Anwar A Chahal, Ghaith Sharaf Dabbagh, Ravi A Shah, Scott Damrauer, Melissa A Kelly, Cynthia A James, Crystal Tichnell, Brittney Murray and 5 more

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In one paragraph

Article in Genetics in medicine open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

15 authors.

Alexandra WintersDepartment of Developmental Medicine, Geisinger, Danville, PA.
Renae JudyDepartment of Surgery, Corporal Michael Crescenz VA Medical Center, Philadelphia, PA.
Choudhary Anwar A ChahalCenter for Inherited Cardiovascular Diseases, WellSpan Health, Lancaster, PA.
Ghaith Sharaf DabbaghCenter for Inherited Cardiovascular Diseases, WellSpan Health, Lancaster, PA.
Ravi A ShahRoyal Brompton Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.
Scott DamrauerDepartment of Surgery, Corporal Michael Crescenz VA Medical Center, Philadelphia, PA.
Melissa A KellyDepartment of Genomic Health, Geisinger, Danville, PA.
Cynthia A JamesDivision of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD.
Crystal TichnellDivision of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD.
Brittney MurrayDivision of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD.
Diane SmelserDepartment of Molecular and Functional Genomics, Geisinger, Danville, PA.
H Shanker RaoDepartment of Molecular and Functional Genomics, Geisinger, Danville, PA.
David J CareyDepartment of Molecular and Functional Genomics, Geisinger, Danville, PA.
Christopher M HaggertyDepartment of Biomedical Informatics Columbia University Irving Medical Center, New York, NY, NewYork-Presbyterian Health System, New York, NY.
Eric D CarruthDepartment of Genomic Health, Geisinger, Danville, PA.

Funding

A Precision Medicine Approach to Arrhythmogenic CardiomyopathyR01HL141901 · NHLBI · GEISINGER CLINIC · PI CARRUTH, ERIC DAVID · 2019 to 2023
$3.1M
NHLBI NIH HHS R01 HL141901
6 · The paper itself

Abstract

Purpose: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited condition associated with increased risk for ventricular arrhythmias and sudden cardiac death. Prior ARVC studies contained majority European-ancestry individuals; however, limited data have shown an increase in disease-associated variants in individuals of African ancestry. This study aimed to assess genotype/phenotype differences by ancestry across several cohorts. Methods: We analyzed genomic and health record data from over 660,000 individuals from 4 population biobanks. We compared the prevalence of predicted pathogenic variants in 4 ARVC-associated genes across ancestries and the association with ARVC-related traits. Results: We observed that individuals with a Conclusion: Although individuals of African ancestry are more likely to carry a

Indexed as

Arrhythmogenic right ventricular cardiomyopathy (ARVC)Desmosome genesGenetic ancestryGenotype-phenotype correlationPopulation genomics

Identifiers

PMID42100464
PMCPMC13147415

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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.