Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants.

Journal of the American Heart Association - 4 Feb 2020

Pottinger Tess D, Puckelwartz Megan J, Pesce Lorenzo L, Robinson Avery, Kearns Samuel, Pacheco Jennifer A, Rasmussen-Torvik Laura J, Smith Maureen E, Chisholm Rex, McNally Elizabeth M

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biological Specimen Banks
Share to Black or African American

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electronic Health Records

Share to Heart Diseases

Share to Mutation, Missense

Share to Risk Assessment

Share to United States

Share to Whole Genome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 32009526
DOI: 10.1161/JAHA.119.013808
PMCID: PMC7033893

Genes

MYBPC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants.PMID 32009526Read ↗

Pathogenic and uncertain genetic variants have clinical cardiac correlates in diverse biobank participantsSemantic proximity Read ↗

Interpretation of Incidental Genetic Findings Localizing to Genes Associated With Cardiac Channelopathies and Cardiomyopathies.Semantic proximity Read ↗

Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association.Semantic proximity Read ↗

Applying High-Resolution Variant Classification to Cardiac Arrhythmogenic Gene Testing in a Demographically Diverse Cohort of Sudden Unexplained Deaths.Semantic proximity Read ↗

Clinical Interpretation and Management of Genetic VariantsSemantic proximity Read ↗

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samplesSemantic proximity Read ↗

Prevalence, Penetrance, and Phenotypic Manifestation of Cardiomyopathy-Associated Genetic Variants in the General Population: Insights from a Mayo Clinic Biobank Study.Semantic proximity Read ↗

The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac deathSemantic proximity Read ↗

Unlocking unknown mutations to understand causal relationships in cardiovascular science: paving the path to personalized cardiovascular care.Semantic proximity Read ↗

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significanceSemantic proximity Read ↗

Extracting and calibrating evidence of variant pathogenicity from population biobank dataSemantic proximity Read ↗

Medical DNA sequencing.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.