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RD-Connect Genome-Phenome Analysis Platform (GPAP)
EC| B1MG ,
EC| EJP RD ,
EC| RD-CONNECT ,
EC| BBMRI-LPC ,
EC| NEUROMICS ,
CIHR ,
EC| Solve-RD ,
EC| ELIXIR-EXCELERATE ,
NIH| Increasing the Yield and Utility of Pediatric Genomic Medicine with Exomiser
Authors: Laurie, Steven; Beltran, Sergi;
Laurie, Steven; Beltran, Sergi;
RD-Connect Genome-Phenome Analysis Platform (GPAP)
Abstract
An online tool for diagnosis and gene discovery in rare disease research. The platform features allow identifying disease-causing mutations in rare disease patients and linking them with detailed clinical information.
Keywords
Medical informatics, Genotype and phenotype, Data mining, Rare diseases
Medical informatics, Genotype and phenotype, Data mining, Rare diseases
1 Research products, page 1 of 1
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).0 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Average influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Average impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Average citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).0 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Average influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Average impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Average Powered byBIP!

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citations
Citations provided by BIP!
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
popularity
Popularity provided by BIP!
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
0
Average
Average
Average
Funded byView all
EC| B1MG, EC| EJP RD, EC| RD-CONNECT, EC| BBMRI-LPC
Project
B1MG
Beyond 1M Genomes
- Funder: European Commission (EC)
- Project Code: 951724
- Funding stream: H2020 | CSA
Project
EJP RD
European Joint Programme on Rare Diseases
- Funder: European Commission (EC)
- Project Code: 825575
- Funding stream: H2020 | COFUND-EJP
result:project:semrel
Project
RD-CONNECT
RD-CONNECT: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research
- Funder: European Commission (EC)
- Project Code: 305444
- Funding stream: FP7 | SP1 | HEALTH
result:project:semrel
Project
BBMRI-LPC
BBMRI - Large Prospective Cohorts
- Funder: European Commission (EC)
- Project Code: 313010
- Funding stream: FP7 | SP4 | INFRA
result:project:semrel
Related to Research communities
An online tool for diagnosis and gene discovery in rare disease research. The platform features allow identifying disease-causing mutations in rare disease patients and linking them with detailed clinical information.