Article

Consultation informs strategies to improve functional evidence use in variant classification

2024-12-06

Abstract excerpt

To determine if a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign a clinical classification. Experimental assay data can provide strong functional evidence for or against pathogenicity in variant classification, but appears to be underutilised. We surveyed genetic diagnostic professionals in Australasia to assess their...

Topics

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

Identifiers and source

Literature Corpus work: 2e56fb64-f837-53f0-b148-0386d06edc5e
DOI: 10.1101/2024.12.04.24318523

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Consultation informs strategies to improve functional evidence use in variant classificationDOI 10.1101/2024.12.04.24318523Read

Consultation informs strategies for improving the use of functional evidence in variant classification.Semantic proximity Read

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation frameworkSemantic proximity Read

Assessing Allele Frequency Information: A Study of Variant Curation Expert Panel Guidelines.Semantic proximity Read

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.Semantic proximity Read

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

Clinical validity of expanded carrier screening: evaluating the gene-disease relationship in more than 200 conditionsSemantic proximity Read

‘Truthsets’ for clinical validation of large-scale functional assays: Practice recommendations from Cancer Variant Interpretation Group UK (CanVIG-UK)Semantic proximity Read

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert PanelsSemantic proximity Read

Clinical validity of expanded carrier screening: Evaluating the gene-disease relationship in more than 200 conditions.Semantic proximity Read

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.Semantic proximity Read

Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation.Semantic proximity Read

A systematic approach to assessing the clinical significance of genetic variants.Semantic proximity Read