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RD-Connect Genome-Phenome Analysis Platform (GPAP)

Name: RD-Connect Genome-Phenome Analysis Platform (GPAP)
Keywords: Medical informatics, Genotype and phenotype, Data mining, Rare diseases

integration_instructionsResearch softwarekeyboard_double_arrow_right Software 23 Feb 2018bio.tools EC | B1MG, EC | EJP RD, EC | RD-CONNECT +6 projects

Authors: Laurie, Steven; Beltran, Sergi;

RD-Connect Genome-Phenome Analysis Platform (GPAP)

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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

1 Research products, page 1 of 1

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
2022IsSupplementTo

Impact byBIP!

	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

BIP!

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Funded byView all

EC| B1MG, EC| EJP RD, EC| RD-CONNECT, EC| BBMRI-LPC

Related to Research communities

ELIXIR GR

EUTOPIA Alliance

Netherlands

RD-Connect Genome-Phenome Analysis Platform (GPAP)

RD-Connect Genome-Phenome Analysis Platform (GPAP)

1 Research products, page 1 of 1

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases