Article

Quantifying the impact of data sharing on variant classification

2021-09-25

Abstract excerpt

Many genomic variants are currently classified, but many more are extremely rare, have minimal associated patient data, and are classified as variants uncertain significance (VUS). Accumulating patient data such as family history and de novo status can help classify variants. Understanding potential timelines for data accumulation and variant classification can inform reporting, diagnosis, and treatment decisions...

Topics

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

Identifiers and source

Literature Corpus work: 5ec00595-c914-5e09-957d-648a1ca6383b
DOI: 10.22541/au.163255739.95175363/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Quantifying the impact of data sharing on variant classificationDOI 10.22541/au.163255739.95175363/v1Read

Modeling the impact of data sharing on variant classification.Semantic proximity Read

Modeling the impact of data sharing on variant classificationSemantic proximity Read

Genomic variant sharing: a position statementSemantic proximity Read

Insights on improving accessibility and usability of functional data to unlock its potential for variant interpretationSemantic proximity Read

Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.Semantic proximity Read

Considerations for reporting variants in novel candidate genes identified during clinical genomic testingSemantic proximity Read

Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.Semantic proximity Read

DATA SHARING AND REPRODUCIBLE CLINICAL GENETIC TESTING: SUCCESSES AND CHALLENGES.Semantic proximity Read

Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.Semantic proximity Read

Resolving different interpretations of gene variants boosts effective use of test results: Sharing data is crucial to improving patient care and genetics research.Semantic proximity Read

HYPOTHESIS GENERATION FOR RARE AND UNDIAGNOSED DISEASES THROUGH CLUSTERING AND CLASSIFYING TIME-VERSIONED BIOLOGICAL ONTOLOGIESSemantic proximity Read

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.Semantic proximity Read