Article

Challenges and approaches to genetic variants of uncertain significance in clinical practice and research

2026-08-10

Abstract excerpt

Despite advances in sequencing technologies and variant interpretation frameworks, many variants identified in genetic testing, particularly missense variants, remain classified as variants of uncertain significance (VUS), posing ongoing challenges in diagnosis and clinical management. This review explores the ongoing challenges of VUS interpretation in clinical genomics and its impact on patients, clinicians, and...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: d13c203e-f80c-57a3-874f-b095134ed41a
DOI: 10.1186/s13073-026-01740-9

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Challenges and approaches to genetic variants of uncertain significance in clinical practice and researchDOI 10.1186/s13073-026-01740-9Read

Challenges and Considerations in Sequence Variant Interpretation for Mendelian DisordersSemantic proximity Read

The Challenge of Genetic Variants of Uncertain Clinical Significance : A Narrative Review.Semantic proximity Read

Will variants of uncertain significance still exist in 2030?Semantic proximity Read

A scalable approach to resolving variants of uncertain significanceSemantic proximity Read

Challenges in the diagnosis and discovery of rare genetic disorders using contemporary sequencing technologiesSemantic proximity Read

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a changeSemantic proximity Read

The current state of clinical interpretation of sequence variants.Semantic proximity Read

Evaluating ClinGen variant curation expert panels' application of PVS1 code.Semantic proximity Read

Variants of uncertain significance: At the crux of diagnostic odysseySemantic proximity Read

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Semantic proximity Read

Navigating the nuances of clinical sequence variant interpretation in Mendelian disease.Semantic proximity Read

Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases.Semantic proximity Read