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

Human Mutation(2022)10.1002/humu.24353Source: DataRank Database

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases is a research paper published in Human Mutation (2022). On theSindex it has a DataRank of 1.3. It has been cited 63 times, with 24 citing works in its 1-hop citation network.

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1.3DataRank · unranked

Scored on demand from live citation data

Open Access63 citations · 24 citing works in its network

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Linked data & code

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (13 grants)Impact (FWCI 9.92)OA: hybridTopics (52)IDs (PubMed, PMC, OpenAlex)Annotations (1)SDGs (2)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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DataRank Breakdown

Base Score 50%Citation Network 50%

Base Score Contribution

0.624

From this paper's citation signal

Citation Network Contribution

0.629

From 16 citing papers with measurable signal

Learn more about DataRank methodology →

Top 5 citers driving the network score

Ranked by each citer's contribution to N(p) — log1p(C_q) divided by its reference count — out of 24 citers.

The Roadmap toward Personalized Medicine: Challenges and Opportunities
Journal of Personalized Medicine202430 citations16 referencesContributes 0.215
Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking
Human Mutation202251 citations51 referencesContributes 0.077
Emerging Strategies in Drug Development and Clinical Care in the Era of Personalized and Precision Medicine
Pharmaceutics202412 citations45 referencesContributes 0.057
Seven years since the launch of the Matchmaker Exchange: the evolution of genomic matchmaking
202214 citations49 referencesContributes 0.055
Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery
The American Journal of Human Genetics202245 citations80 referencesContributes 0.048

Authors (51)

Davide Piscia ORCID,Leslie Matalonga ORCID,Alberto Corvò ORCID,Carles García,Marcos Fernández-Callejo ORCID

Live enrichment

PubMed:35178824 PMC:PMC9324157 OpenAlex:https://openalex.org/W4212853299

Muscular Dystrophy UK

Grant: RA4/0924

NICHD NIH HHS

Grant: R01 HD103805

European Commission

Grant: 779257

Solving the unsolved Rare Diseases

European Commission

Grant: 313010

BBMRI - Large Prospective Cohorts

European Commission

Grant: 305444

RD-CONNECT: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research

National Institutes of Health

Grant: 1R01HD103805-01

Increasing the Yield and Utility of Pediatric Genomic Medicine with Exomiser

European Commission

Grant: 825575

European Joint Programme on Rare Diseases

European Commission

Grant: 676559

ELIXIR-EXCELERATE: Fast-track ELIXIR implementation and drive early user exploitation across the life-sciences.

European Commission

Grant: 951724

Beyond 1M Genomes

UK Research and Innovation

Grant: MR/N027302/1

New genomic approaches to explore the neurogenetic disease burden of consanguineous marriages in Turkey

Canadian Institutes of Health Research

Grant: unidentified

unidentified

European Commission

Grant: 305121

Integrated European –omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases

National Institutes of Health

Grant: 5R01HD103805-03

Increasing the Yield and Utility of Pediatric Genomic Medicine with Exomiser

FWCI

9.92

Citation Percentile

1.0%

Citation Trend

2022

2023

2024

2025

2026

hybridLicense: cc-by-nc

journalhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.24353

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.24353

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24353

journalhttps://doi.org/10.1002/humu.24353

repositoryhttps://pubmed.ncbi.nlm.nih.gov/35178824

Fields of Study

Genomics and Rare DiseasesBiomedical Text Mining and OntologiesBioinformatics and Genomic Networks0301 basic medicine03 medical and health sciences0303 health sciencesExomeGenetic Association StudiesGenomicsHumansPhenotypeRare Diseases

MeSH Terms

HumansPhenotypeGenomicsRare DiseasesGenetic Association StudiesExome

Keywords

PhenomeGenomeBiologyComputational biologyExomeExome sequencingTranslational bioinformaticsGenomicsDiseaseBioinformaticsGeneGeneticsPhenotypeMedicineGenome analysisdata sharingDiagnosticsRare DiseasesNgsData StandardizationPatient MatchmakingSettore BIO/18 - GENETICAdiagnostic610Medical Genetics and GenomicsSpecial ArticleMedicine and Health SciencesHumansGenetic Association StudiesJGMLife SciencesMedicinsk genetik och genomikgenome analysiNGS; data sharing; data standardization; diagnostics; genome analysis; patient matchmaking; rare diseases

Sustainable Development Goals

SDG 3: 3. Good healthSDG 0: Partnerships for the goals