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

Using bioinformatic tools to identify high-risk variants of uncertain significance in aortopathy genes that increase aortic dissection risk.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2026

DePaolo John, Guo Dong-Chuan, Murdock David R, Cecchi Alana C, LeMaire Scott A, Shen Hu Ying, Estrera Anthony L, Safi Hazim J, Coselli Joseph S, Smith Josh, Bamshad Michael J, Damrauer Scott, Milewicz Dianna M

Abstract excerpt

PURPOSE: Variants of uncertain significance (VUS) represent are clinical challenging. We hypothesize that bioinformatic tools can identify VUS that are "high risk." METHODS: Primary analyses were performed in the Penn Medicine Biobank, which is composed of 43,731 participants, 11,925 of whom carried at least 1 missense VUS in the 11 genes associated with heritable thoracic aortic disease. VUS rare exome variant...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Aortic Aneurysm, Thoracic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Aortic Dissection

Share to Computational Biology

Share to Gene Frequency

Share to Genetic Testing

Share to Risk Factors

Source

Identifiers

PMID: 41937740
DOI: 10.1016/j.gim.2026.102571

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Using bioinformatic tools to identify high-risk variants of uncertain significance in aortopathy genes that increase aortic dissection risk.PMID 41937740Read ↗

Clinical implications of identifying pathogenic variants in aortic dissection patients with whole exome sequencingSemantic proximity Read ↗

Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic DissectionSemantic proximity Read ↗

Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran ProgramSemantic proximity Read ↗

Genome-wide Association Study of Thoracic Aortic Aneurysm and Dissection in the Million Veteran ProgramSemantic proximity Read ↗

Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections.Semantic proximity Read ↗

Genome-First Approach to Rare and Common Variant Risk of Thoracic Aortic Aneurysm and DissectionSemantic proximity Read ↗

Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testingSemantic proximity Read ↗

Prevalence of Genetic Variants and Deep Phenotyping of Patients with Thoracic Aortic Aneurysm and Dissection: A Cross-Sectional Single Centre Cohort StudySemantic proximity Read ↗

Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.Semantic proximity Read ↗

Update on the genetic risk for thoracic aortic aneurysms and acute aortic dissections: implications for clinical care.Semantic proximity Read ↗

Insights on Prevalence of Hereditary Aortic Thoracic Disease and Impact on Family Screening in Routine Clinical Cardiothoracic Surgery CareSemantic proximity Read ↗

Utilization of current ACC/AHA genetic testing recommendations for thoracic aortic disease at a large adult aortic center.Semantic proximity Read ↗

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