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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao bio.toolsarrow_drop_down
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
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RD-Connect Genome-Phenome Analysis Platform (GPAP)

Authors: 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

  • BIP!
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    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).
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    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!BIP!
Powered by OpenAIRE graph
Found an issue? Give us feedback
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).
BIP!Citations provided by BIP!
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.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
Funded byView all
EC| B1MG
Project
B1MG
Beyond 1M Genomes
  • Funder: European Commission (EC)
  • Project Code: 951724
  • Funding stream: H2020 | CSA
,
EC| EJP RD
Project
EJP RD
European Joint Programme on Rare Diseases
  • Funder: European Commission (EC)
  • Project Code: 825575
  • Funding stream: H2020 | COFUND-EJP
result:project:semrel
,
EC| RD-CONNECT
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
,
EC| BBMRI-LPC
Project
BBMRI-LPC
BBMRI - Large Prospective Cohorts
  • Funder: European Commission (EC)
  • Project Code: 313010
  • Funding stream: FP7 | SP4 | INFRA
result:project:semrel
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