Genomics England | PanelApp
Names
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Genomics England | PanelApp
metasource: Fairsharing.org
version: FAIRsharing.org: PanelApp; Genomics England | PanelApp; DOI: https://doi.org/10.25504/FAIRsharing.yfk4w2; Last edited: July 28, 2020, 11:43 a.m.; Last accessed: Jan 03 2022 7:08 p.m.
PanelApp
metasource: Fairsharing.org
version: FAIRsharing.org: PanelApp; Genomics England | PanelApp; DOI: https://doi.org/10.25504/FAIRsharing.yfk4w2; Last edited: July 28, 2020, 11:43 a.m.; Last accessed: Jan 03 2022 7:08 p.m.
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:57.096017
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929
panelapp
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:57.096017
Genomics England PanelApp
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929
GE PanelApp
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929
Names
More detailed information about this field from each metasource.
Genomics England | PanelApp
metasource: Fairsharing.orgversion: FAIRsharing.org: PanelApp; Genomics England | PanelApp; DOI: https://doi.org/10.25504/FAIRsharing.yfk4w2; Last edited: July 28, 2020, 11:43 a.m.; Last accessed: Jan 03 2022 7:08 p.m.
PanelApp
metasource: Fairsharing.orgversion: FAIRsharing.org: PanelApp; Genomics England | PanelApp; DOI: https://doi.org/10.25504/FAIRsharing.yfk4w2; Last edited: July 28, 2020, 11:43 a.m.; Last accessed: Jan 03 2022 7:08 p.m.
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:57.096017
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929
panelapp
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:57.096017
Genomics England PanelApp
metasource: BiŌkeanós-Medsourcingversion: 0.0.1:2022-11-04T13:34:25.975929
GE PanelApp
metasource: BiŌkeanós-Medsourcingversion: 0.0.1:2022-11-04T13:34:25.975929
Other names: PanelApp, panelapp, Genomics England PanelApp, GE PanelApp
Names
More detailed information about this field from each metasource.
Genomics England | PanelApp
metasource: Fairsharing.orgversion: FAIRsharing.org: PanelApp; Genomics England | PanelApp; DOI: https://doi.org/10.25504/FAIRsharing.yfk4w2; Last edited: July 28, 2020, 11:43 a.m.; Last accessed: Jan 03 2022 7:08 p.m.
PanelApp
metasource: Fairsharing.orgversion: FAIRsharing.org: PanelApp; Genomics England | PanelApp; DOI: https://doi.org/10.25504/FAIRsharing.yfk4w2; Last edited: July 28, 2020, 11:43 a.m.; Last accessed: Jan 03 2022 7:08 p.m.
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:57.096017
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929
panelapp
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:57.096017
Genomics England PanelApp
metasource: BiŌkeanós-Medsourcingversion: 0.0.1:2022-11-04T13:34:25.975929
GE PanelApp
metasource: BiŌkeanós-Medsourcingversion: 0.0.1:2022-11-04T13:34:25.975929
Genomics England PanelApp is a publicly-available knowledgebase that allows virtual gene panels related to human disorders to be created, stored and queried. It includes a crowdsourcing tool that allows genes and genomic entities (short tandem repeats/STRs and copy number variants/CNVs) to be added or reviewed by experts throughout the worldwide scientific community, providing an opportunity for the standardisation of gene panels, and a consensus on which genes have sufficient evidence for disease association.
Description
More detailed information about this field from each metasource.
Genomics England PanelApp is a publicly-available knowledgebase that allows virtual gene panels related to human disorders to be created, stored and queried. It includes a crowdsourcing tool that allows genes and genomic entities (short tandem repeats/STRs and copy number variants/CNVs) to be added or reviewed by experts throughout the worldwide scientific community, providing an opportunity for the standardisation of gene panels, and a consensus on which genes have sufficient evidence for disease association.
metasource: BiŌkeanós-Medsourcingversion: 0.0.1:2022-11-04T13:34:25.975929
Genomics England PanelApp is a publically-available knowledgebase that allows virtual gene panels related to human disorders to be created, stored and queried. It includes a crowdsourcing tool that allows genes to be added or reviewed by experts throughout the worldwide scientific community, providing an opportunity for the standardisation of gene panels, and a consensus on which genes have sufficient evidence for disease association. The diagnostic grade ‘Green’ genes and their modes of inheritance in the Version 1+ PanelApp virtual gene panels are used to direct the variant tiering process for the interpretation of genomes in the 100,000 Genomes Project and for the National Health Service England Genomic Medicine Service. As panels in PanelApp are publically available, they can also be utilised by others. Experts are asked to register (https://panelapp.genomicsengland.co.uk/accounts/registration/) in order to review and rate the genes on the panel to indicate whether there is a diagnostic-grade level of evidence for the gene to be implicated in a given disease. Bioinformaticians can access the data via the PanelApp API (https://panelapp.genomicsengland.co.uk/#!API). More detailed background information, instructions and updates can be found on the PanelApp homepage tabs.
metasource: Fairsharing.orgversion: FAIRsharing.org: PanelApp; Genomics England | PanelApp; DOI: https://doi.org/10.25504/FAIRsharing.yfk4w2; Last edited: July 28, 2020, 11:43 a.m.; Last accessed: Jan 03 2022 7:08 p.m.
Genomics England PanelApp is a publically-available knowledgebase that allows virtual gene panels related to human disorders to be created, stored and queried. It includes a crowdsourcing tool that allows genes to be added or reviewed by experts throughout the worldwide scientific community, providing an opportunity for the standardisation of gene panels, and a consensus on which genes have sufficient evidence for disease association.
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:57.096017
Webpage:
https://panelapp.genomicsengland.co.ukWebpage
More detailed information about this field from each metasource.
https://panelapp.genomicsengland.co.uk
metasource: BiŌkeanós-Medsourcingversion: 0.0.1:2022-11-04T13:34:25.975929
https://panelapp.genomicsengland.co.uk/
metasource: Fairsharing.orgversion: FAIRsharing.org: PanelApp; Genomics England | PanelApp; DOI: https://doi.org/10.25504/FAIRsharing.yfk4w2; Last edited: July 28, 2020, 11:43 a.m.; Last accessed: Jan 03 2022 7:08 p.m.
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:57.096017
Licence:
Name: Genomics England PanelApp terms and conditions. Approval required for commercial use.Licence name
More detailed information about this field from each metasource.
Genomics England PanelApp terms and conditions. Approval required for commercial use.
metasource: BiŌkeanós-Medsourcingversion: 0.0.1:2022-11-04T13:34:25.975929
PanelApp Terms of Use
metasource: Fairsharing.orgversion: FAIRsharing.org: PanelApp; Genomics England | PanelApp; DOI: https://doi.org/10.25504/FAIRsharing.yfk4w2; Last edited: July 28, 2020, 11:43 a.m.; Last accessed: Jan 03 2022 7:08 p.m.
Licence URL
More detailed information about this field from each metasource.
https://panelapp.genomicsengland.co.uk/#!Content
metasource: BiŌkeanós-Medsourcingversion: 0.0.1:2022-11-04T13:34:25.975929
https://panelapp.genomicsengland.co.uk/media/files/GEL_-_PanelApp_Terms_of_Use_December_2019.pdf
metasource: Fairsharing.orgversion: FAIRsharing.org: PanelApp; Genomics England | PanelApp; DOI: https://doi.org/10.25504/FAIRsharing.yfk4w2; Last edited: July 28, 2020, 11:43 a.m.; Last accessed: Jan 03 2022 7:08 p.m.
Publications:
Publications
More detailed information about this field from each metasource.
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
PMID: 31676867
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929
metasource: Fairsharing.org
version: FAIRsharing.org: PanelApp; Genomics England | PanelApp; DOI: https://doi.org/10.25504/FAIRsharing.yfk4w2; Last edited: July 28, 2020, 11:43 a.m.; Last accessed: Jan 03 2022 7:08 p.m.
Publications
More detailed information about this field from each metasource.
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
PMID: 31676867
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929
metasource: Fairsharing.org
version: FAIRsharing.org: PanelApp; Genomics England | PanelApp; DOI: https://doi.org/10.25504/FAIRsharing.yfk4w2; Last edited: July 28, 2020, 11:43 a.m.; Last accessed: Jan 03 2022 7:08 p.m.
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PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
PubMed citations: 74.
74 articles citing: PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
Recommendations for clinical interpretation of variants found in non-coding regions of the genome. PMID:35850704
HumanMine: advanced data searching, analysis and cross-species comparison. PMID:35820040
Molecular Modelling Hurdle in the Next-Generation Sequencing Era. PMID:35806177
Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19. PMID:35725860
New Insights on the Regulatory Gene Network Disturbed in Central Areolar Choroidal Dystrophy-Beyond Classical Gene Candidates. PMID:35656327
A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations. PMID:35584218
Sulfation Pathways During Neurodevelopment. PMID:35495624
AutozygosityMapper: Identification of disease-mutations in consanguineous families. PMID:35489060
Leveraging omic features with F3UTER enables identification of unannotated 3'UTRs for synaptic genes. PMID:35477703
Gene-SCOUT: identifying genes with similar continuous trait fingerprints from phenome-wide association analyses. PMID:35474393
The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer. PMID:35449451
Predicting causal genes from psychiatric genome-wide association studies using high-level etiological knowledge. PMID:35411039
Best practices for the interpretation and reporting of clinical whole genome sequencing. PMID:35395838
A joint NCBI and EMBL-EBI transcript set for clinical genomics and research. PMID:35388217
Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation. PMID:35316832
GOing Forward With the Cardiac Conduction System Using Gene Ontology. PMID:35309148
Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease. PMID:35264785
Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil. PMID:35246524
GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data. PMID:35234913
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A. PMID:35197628
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases. PMID:35178824
Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY. PMID:35108381
Variant interpretation: UCSC Genome Browser Recommended Track Sets. PMID:35088925
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases. PMID:35087072
Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder. PMID:34999892
A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins. PMID:34982829
Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy? PMID:34946867
SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance. PMID:34905022
Poking COVID-19: Insights on Genomic Constraints among Immune-Related Genes between Qatari and Italian Populations. PMID:34828448
Cost-Effectiveness of Targeted Exome Analysis as a Diagnostic Test in Glomerular Diseases. PMID:34805637
A contemporary clinical approach to genetic testing for heritable hyperparathyroidism syndromes. PMID:34773560
Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder. PMID:34764295
Network analysis reveals rare disease signatures across multiple levels of biological organization. PMID:34753928
Mitochondrial-nuclear cross-talk in the human brain is modulated by cell type and perturbed in neurodegenerative disease. PMID:34737414
Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome. PMID:34737199
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study. PMID:34732400
PRDM12 Is Transcriptionally Active and Required for Nociceptor Function Throughout Life. PMID:34646120
Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization. PMID:34645894
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA. PMID:34607911
Whole genome sequencing in the diagnosis of primary ciliary dyskinesia. PMID:34556108
Biomolecule and Bioentity Interaction Databases in Systems Biology: A Comprehensive Review. PMID:34439912
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis. PMID:34429528
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution. PMID:34329581
Principles of Genomic Newborn Screening Programs: A Systematic Review. PMID:34283230
Late diagnoses of Dravet syndrome: How many individuals are we missing? PMID:34268891
Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia. PMID:34149817
Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial. PMID:34127041
A framework for automated gene selection in genomic applications. PMID:34113001
Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature. PMID:33938912
The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases. PMID:33924139
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders. PMID:33879512
MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes. PMID:33836063
Shared heritability of human face and brain shape. PMID:33821002
Improving the clinical interpretation of missense variants in X linked genes using structural analysis. PMID:33766936
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients. PMID:33726816
CoExp: A Web Tool for the Exploitation of Co-expression Networks. PMID:33719340
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients. PMID:33673806
Next-Generation Sequencing in the Field of Primary Immunodeficiencies: Current Yield, Challenges, and Future Perspectives. PMID:33666867
Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review. PMID:33540854
Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy. PMID:33534821
Genetics of Peripartum Cardiomyopathy: Current Knowledge, Future Directions and Clinical Implications. PMID:33467574
Assessing the Role of Rare Genetic Variation in Patients With Heart Failure. PMID:33326012
Hereditary Hypertrophic Cardiomyopathy in Children and Young Adults-The Value of Reevaluating and Expanding Gene Panel Analyses. PMID:33302605
No association between SCN9A and monogenic human epilepsy disorders. PMID:33216760
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project. PMID:32934340
The role of host genetics in susceptibility to severe viral infections in humans and insights into host genetics of severe COVID-19: A systematic review. PMID:32918943
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population. PMID:32907636
Sarcoma and the 100,000 Genomes Project: our experience and changes to practice. PMID:32573957
GlyGen data model and processing workflow. PMID:32324859
Inherited Tubulopathies of the Kidney: Insights from Genetics. PMID:32238367
Genomic loci susceptible to systematic sequencing bias in clinical whole genomes. PMID:32156711
Inherited Renal Tubulopathies-Challenges and Controversies. PMID:32150856
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders. PMID:32050448
Incremental data integration for tracking genotype-disease associations. PMID:31986132
Tags:
Tags
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cancer
metasource: Fairsharing.org
version: FAIRsharing.org: PanelApp; Genomics England | PanelApp; DOI: https://doi.org/10.25504/FAIRsharing.yfk4w2; Last edited: July 28, 2020, 11:43 a.m.; Last accessed: Jan 03 2022 7:08 p.m.
disease
metasource: Fairsharing.org
version: FAIRsharing.org: PanelApp; Genomics England | PanelApp; DOI: https://doi.org/10.25504/FAIRsharing.yfk4w2; Last edited: July 28, 2020, 11:43 a.m.; Last accessed: Jan 03 2022 7:08 p.m.
rare disease
metasource: Fairsharing.org
version: FAIRsharing.org: PanelApp; Genomics England | PanelApp; DOI: https://doi.org/10.25504/FAIRsharing.yfk4w2; Last edited: July 28, 2020, 11:43 a.m.; Last accessed: Jan 03 2022 7:08 p.m.
personalised medicine
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:57.096017
genomics
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:57.096017
medicine
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:57.096017
exome sequencing
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:57.096017
rare diseases
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:57.096017
Tags
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cancer
metasource: Fairsharing.orgversion: FAIRsharing.org: PanelApp; Genomics England | PanelApp; DOI: https://doi.org/10.25504/FAIRsharing.yfk4w2; Last edited: July 28, 2020, 11:43 a.m.; Last accessed: Jan 03 2022 7:08 p.m.
disease
metasource: Fairsharing.orgversion: FAIRsharing.org: PanelApp; Genomics England | PanelApp; DOI: https://doi.org/10.25504/FAIRsharing.yfk4w2; Last edited: July 28, 2020, 11:43 a.m.; Last accessed: Jan 03 2022 7:08 p.m.
rare disease
metasource: Fairsharing.orgversion: FAIRsharing.org: PanelApp; Genomics England | PanelApp; DOI: https://doi.org/10.25504/FAIRsharing.yfk4w2; Last edited: July 28, 2020, 11:43 a.m.; Last accessed: Jan 03 2022 7:08 p.m.
personalised medicine
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:57.096017
genomics
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:57.096017
medicine
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:57.096017
exome sequencing
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:57.096017
rare diseases
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:57.096017
cancer disease rare disease personalised medicine genomics medicine exome sequencing rare diseases
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