ArticleJournal of the American Heart Association2020
Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants.
Article in Journal of the American Heart Association, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 41 citations in OpenAlex.
- Recommendations for return of secondary genomic findings in observational cohort studies.Nature genetics · 2026Review
- Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine.Nature reviews. Cardiology · 2026Review
- A combined genomic arrhythmia propensity score delineates cumulative risk.Cell reports. Medicine · 2025Article
- Using large-scale population-based data to improve disease risk assessment of clinical variants.Nature genetics · 2025Review
- Effect ofWorld journal of diabetes · 2025Article
- The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants.American journal of human genetics · 2024Article
- Article
- Copy number variants and fetal structural abnormalities in stillborn fetuses: A secondary analysis of the Stillbirth Collaborative Research Network study.BJOG : an international journal of obstetrics and gynaecology · 2024Article
- Improved selection of zebrafish CRISPR editing by early next-generation sequencing based genotyping.Scientific reports · 2023Article
- Opposing effects of genetic variation in MTCH2 for obesity versus heart failure.Human molecular genetics · 2023Article
- Evolving cardiovascular genetic counseling needs in the era of precision medicine.Frontiers in cardiovascular medicine · 2023Article
- Copy number variants and placental abnormalities in stillborn fetuses: A secondary analysis of the Stillbirth Collaborative Research Network study.BJOG : an international journal of obstetrics and gynaecology · 2022Article
- Analysis of clinically relevant variants from ancestrally diverse Asian genomes.Nature communications · 2022Article
- Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.American journal of medical genetics. Part A · 2022Article
- Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study.Circulation · 2022Article
- Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.American journal of human genetics · 2022Article
- Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome.Molecular genetics & genomic medicine · 2022Article
- The genetic architecture of pediatric cardiomyopathy.American journal of human genetics · 2022Article
- The Complex and Diverse Genetic Architecture of Dilated Cardiomyopathy.Circulation research · 2021Review
- Changes in genetic variant results over time in pediatric cardiomyopathy and electrophysiology.Journal of genetic counseling · 2021Article
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10 authors at 2 institutions in 1 country.
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Abstract
Background Genome sequencing coupled with electronic heath record data can uncover medically important genetic variation. Interpretation of rare genetic variation and its role in mediating cardiovascular phenotypes is confounded by variants of uncertain significance. Methods and Results We analyzed the whole genome sequence of 900 racially and ethnically diverse biobank participants selected from a single US center. Participants were equally divided among European, African, Hispanic, and mixed races/ethnicities. We evaluated the American College of Medical Genetics and Genomics medically actionable list of 59 genes, focusing on the cardiac genes. Variation was interpreted using the most recent reports in ClinVar, a database of medically relevant human variation. We identified 19 individuals with pathogenic or likely pathogenic variants in cardiac actionable genes (2%) and found evidence of related clinical correlates in the electronic health record. Participants of African ancestry, compared with those of European ancestry, had more variants of uncertain significance in the medically actionable genes including the 30 cardiac actionable genes, even when normalized to total variant count per person. Longitudinal measures of left ventricle size from ≈400 biobank participants (1723 patient-years) were correlated with genetic findings. The presence of ≥1 uncertain variant in the actionable cardiac genes and a cardiomyopathy diagnosis correlated with increased left ventricular internal diameter in diastole and in systole. In particular,
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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.