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dc.contributor.authorAllen, S
dc.contributor.authorGarrett, A
dc.contributor.authorMuffley, L
dc.contributor.authorFayer, S
dc.contributor.authorForeman, J
dc.contributor.authorAdams, DJ
dc.contributor.authorHurles, M
dc.contributor.authorRubin, AF
dc.contributor.authorRoth, FP
dc.contributor.authorStarita, LM
dc.contributor.authorBiesecker, LG
dc.contributor.authorTurnbull, C
dc.coverage.spatialEngland
dc.date.accessioned2024-05-29T13:35:10Z
dc.date.available2024-05-29T13:35:10Z
dc.date.issued2024-05-01
dc.identifier10.1038/s41431-024-01566-2
dc.identifier.citationEuropean Journal of Human Genetics, 2024, 32 (5), pp. 593 - 600en_US
dc.identifier.issn1018-4813
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/6260
dc.identifier.eissn1476-5438
dc.identifier.eissn1476-5438
dc.identifier.doi10.1038/s41431-024-01566-2
dc.identifier.doi10.1038/s41431-024-01566-2
dc.description.abstractClinical classification of genomic variants identified on sequencing is often challenging, with many variants classified as Variants of Uncertain Significance (VUS) on account of insufficient evidence. Advances in sequencing and gene synthesis has made feasible multiplexed assays of variant effect (MAVEs), which quantify the functional impact of many thousands of genomic variants in a single experiment. These assays and the functional evidence they generate have the potential to empower more accurate clinical variant classification. However, there are many outstanding challenges and opportunities that require joint resolution and specification, thus necessitating communication between the research scientists who have designed and performed MAVEs and the clinicians and diagnostic scientists who will apply their data to clinical variant classification. In the ‘Clinical Application of MAVE Data’ workshop, held on 12th July 2023 at the Wellcome Connecting Science Conference Centre in between two relevant research meetings, ‘Curating the Clinical Genome 2023’ and the ‘Mutational Scanning Symposium 2023’, 44 key scientific and/or clinical stakeholders were brought together to consider important questions relating to clinical application of MAVE data, such as quantitative validation, variant truth-sets, platforms and standards for dissemination of MAVE data. The outcomes and possible next steps that were discussed encompassed development of focused workshops to develop consensus recommendations, creating a MAVE evaluation working group, and collaboration of ClinVar and MaveDB to enact software changes that support enhanced functional data submission.
dc.formatPrint-Electronic
dc.format.extent593 - 600
dc.languageeng
dc.language.isoengen_US
dc.publisherSPRINGERNATUREen_US
dc.relation.ispartofEuropean Journal of Human Genetics
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en_US
dc.subjectHumans
dc.subjectGenetic Testing
dc.titleWorkshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023.en_US
dc.typeJournal Article
dcterms.dateAccepted2024-02-08
dc.date.updated2024-05-29T13:34:41Z
rioxxterms.versionVoRen_US
rioxxterms.versionofrecord10.1038/s41431-024-01566-2en_US
rioxxterms.licenseref.startdate2024-05-01
rioxxterms.typeJournal Article/Reviewen_US
pubs.author-urlhttps://www.ncbi.nlm.nih.gov/pubmed/38433264
pubs.issue5
pubs.organisational-groupICR
pubs.organisational-groupICR/Students
pubs.organisational-groupICR/Students/PhD and MPhil
pubs.organisational-groupICR/Students/PhD and MPhil/23/24 Starting Cohort
pubs.publication-statusPublished
pubs.publisher-urlhttp://dx.doi.org/10.1038/s41431-024-01566-2
pubs.volume32
icr.researchteamTranslational Geneticsen_US
dc.contributor.icrauthorAllen, Sophie
dc.contributor.icrauthorTurnbull, Clare
icr.provenanceDeposited by Mr Arek Surman on 2024-05-29. Deposit type is initial. No. of files: 1. Files: Workshop report the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023.pdf


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