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

Other names: PanelApp, panelapp, Genomics England PanelApp, GE PanelApp

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.

Webpage:

https://panelapp.genomicsengland.co.uk

Licence:

Name: Genomics England PanelApp terms and conditions. Approval required for commercial use.
URL: https://panelapp.genomicsengland.co.uk/#!Content

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.

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
More detailed information about this field from each metasource.

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

cancer disease rare disease personalised medicine genomics medicine exome sequencing rare diseases

Need help integrating and/or managing biomedical data?