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

Validating data from multiplex assays of variant effect: A CanVIG-UK national survey of NHS clinical scientists.

American journal of human genetics - 5 Jun 2025

Allen Sophie, Garrett Alice, Rowlands Charlie F, Durkie Miranda, Burghel George J, Robinson Rachel, Callaway Alison, Field Joanne, Frugtniet Bethan, Palmer-Smith Sheila, Grant Jonathan, Pagan Judith, McDevitt Trudi, Snape Katie, Hanson Helen, McVeigh Terri, Adams David J, Findlay Gregory M, Villani Rehan M, Spurdle Amanda B, Turnbull Clare

Abstract excerpt

Advances in technology have made it possible for multiplex assays of variant effect (MAVEs) to systematically generate functional data for thousands of genetic variants. Robust clinical validation and accessible online resources for MAVE data have previously been identified as barriers to the clinical adoption of new MAVEs. We delivered a survey during the November 2024 Cancer Variant Interpretation Group UK...

Read the complete abstract on PubMed

Topics

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

Share to NHS gene
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Neoplasms

Share to Reproducibility of Results

Share to Surveys and Questionnaires

Share to United Kingdom

Source

Open in PubMed Open full text

Identifiers

PMID: 40480200
DOI: 10.1016/j.ajhg.2025.04.006
PMCID: PMC12256791

Genes

NHS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Validating data from multiplex assays of variant effect: A CanVIG-UK national survey of NHS clinical scientists.PMID 40480200Read ↗

Validating data from Multiplex Assays of Variant Effect (MAVEs): A CanVIG-UK National Survey of NHS Clinical ScientistsSemantic proximity Read ↗

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

MaveRegistry: a collaboration platform for multiplexed assays of variant effectSemantic proximity Read ↗

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

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

Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary networkSemantic proximity Read ↗

MaveQuest: a web resource for planning experimental tests of human variant effects.Semantic proximity Read ↗

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

Consultation informs strategies to improve functional evidence use in variant classificationSemantic proximity Read ↗

MaveMD: A functional data resource for genomic medicineSemantic proximity Read ↗

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.Semantic proximity Read ↗

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.Semantic proximity Read ↗

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