ReviewAmerican journal of human genetics2021
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.
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Review in American journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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52citing papers in PubMed
–field-weighted citation impact
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Who cites it
52 citing papers in PubMed.
- Article
- Gene-disease relationships for glomerular phenotypes: expert recommendations from ClinGen.Nature reviews. Nephrology · 2026Review
- Whole-exome sequencing identifies matrisomal gene associations in monogenic cerebral small vessel disease.Journal of neurology · 2026Article
- 2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing.Journal of neuromuscular diseases · 2026Article
- Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease.American journal of human genetics · 2026Article
- Rare variants in embryonic development and cell signalling genes in syndromic and non-syndromic orofacial clefts: evidence from a Colombian Caribbean cohort.Journal of human genetics · 2026Article
- CNV-Hub: an integrated web-based platform for CNV classification and interpretation using multi-algorithm consensus.NAR genomics and bioinformatics · 2026Article
- Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics.JIMD reports · 2026Article
- Genome-scale functional mapping of the mammalian whole brain with in vivo Perturb-seq.bioRxiv : the preprint server for biology · 2026Article
- Individuals whose phenotype deviates from genetic expectation defined by common variation are enriched for rare damaging variants in genes that cause rare disease.medRxiv : the preprint server for health sciences · 2025Article
- Determining the value of genomics in healthcare.Nature medicine · 2025Review
- Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma.NPJ genomic medicine · 2025Article
- The Intersection Between Genetic Reproductive Carrier Screening and Genomic Newborn Screening: Implications for Clinical Practice.Prenatal diagnosis · 2025Article
- Nephrogenomics, precision medicine and the role of genetic testing in adult kidney disease management.Nature reviews. Nephrology · 2025Review
- Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.Brain : a journal of neurology · 2025Article
- Monogenic Epilepsies in Adult Epilepsy Clinics and Gene-Driven Approaches to Treatment.Current neurology and neuroscience reports · 2025Review
- Comparison of inherited retinal disease genes covered by two comprehensive genetic testing panels and a widely used online resource.Eye (London, England) · 2025Article
- Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel.Journal of the American College of Cardiology · 2025Article
- A guide to gene-disease relationships in nephrology.Nature reviews. Nephrology · 2025Review
- A call to action to scale up research and clinical genomic data sharing.Nature reviews. Genetics · 2025Review
Corrections and comments
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Authors and funding
42 authors.
Zornitza StarkAustralian Genomics Health Alliance, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia. Electronic address: zornitza.stark@vcgs.org.au.
Rebecca E FoulgerGenomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Eleanor WilliamsGenomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Bryony A ThompsonUniversity of Melbourne, Melbourne, VIC 3010, Australia; Royal Melbourne Hospital, Melbourne, VIC 3050, Australia.
Chirag PatelGenetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4006, Australia.
Sebastian LunkeVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia.
Catherine SnowGenomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Ivone U S LeongGenomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Arina PuzriakovaGenomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Louise C DaughertyGenomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Sarah LeighGenomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Christopher BoustredGenomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Olivia NiblockGenomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Antonio Rueda-MartinGenomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Oleg GerasimenkoGenomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Kevin SavageGenomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
William BellamyGenomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Victor San Kho LinCentre for Cancer Research, University of Melbourne, Victorian Comprehensive Cancer Centre, Melbourne, VIC 3000, Australia.
Roman VallsCentre for Cancer Research, University of Melbourne, Victorian Comprehensive Cancer Centre, Melbourne, VIC 3000, Australia.
Lavinia GordonCentre for Cancer Research, University of Melbourne, Victorian Comprehensive Cancer Centre, Melbourne, VIC 3000, Australia.
Helen K BrittainGenomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Ellen R A ThomasGenomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK; Guy's and St Thomas's NHS Trust, London SE1 9RS, UK.
Ana Lisa Taylor TavaresGenomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Meriel McEntagartGenomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK; St George's University Hospitals NHS Trust, London SW17 0QT, UK.
Susan M WhiteVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia.
Tiong Y TanVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia.
Alison YeungVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia.
Lilian DownieUniversity of Melbourne, Melbourne, VIC 3010, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
Ivan MaccioccaVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
Elena SavvaVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
Crystle LeeVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
Ain RoesleyVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
Paul De FazioVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
Jane DellerNational Health Service England and National Health Service Improvement, London SE1 6LH, UK.
Zandra C DeansNational Health Service England and National Health Service Improvement, London SE1 6LH, UK.
Sue L HillNational Health Service England and National Health Service Improvement, London SE1 6LH, UK.
Mark J CaulfieldGenomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Kathryn N NorthAustralian Genomics Health Alliance, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
Richard H ScottGenomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Augusto RendonGenomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Oliver HofmannCentre for Cancer Research, University of Melbourne, Victorian Comprehensive Cancer Centre, Melbourne, VIC 3000, Australia.
Ellen M McDonaghGenomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK; Open Targets and European Molecular Biology Laboratory - European Bioinformatics Institute, Wellcome Genome Campus, Hinxton CB10 1SD, UK.
Funding
Cancer Research UKDepartment of HealthMedical Research Council MC_EX_MR/M009203/1Medical Research Council MC_PC_14089Medical Research Council MR/M009203/1Wellcome Trust
Abstract
Clinical validity assessments of gene-disease associations underpin analysis and reporting in diagnostic genomics, and yet wide variability exists in practice, particularly in use of these assessments for virtual gene panel design and maintenance. Harmonization efforts are hampered by the lack of agreed terminology, agreed gene curation standards, and platforms that can be used to identify and resolve discrepancies at scale. We undertook a systematic comparison of the content of 80 virtual gene panels used in two healthcare systems by multiple diagnostic providers in the United Kingdom and Australia. The process was enabled by a shared curation platform, PanelApp, and resulted in the identification and review of 2,144 discordant gene ratings, demonstrating the utility of sharing structured gene-disease validity assessments and collaborative discordance resolution in establishing national and international consensus.
Indexed as
ConsensusAustraliaBiomarkersData CurationDelivery of Health CareGene ExpressionGene OntologyGenetic Diseases, InbornGenomicsHumansMobile ApplicationsMolecular Sequence AnnotationTerminology as TopicUnited KingdomBiomarkers
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.