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OARD: Open annotations for rare diseases and their phenotypes based on real-world data

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.08.002Source: DataRank Database

OARD: Open annotations for rare diseases and their phenotypes based on real-world data is a research paper published in The American Journal of Human Genetics (2022). On theSindex it has a DataRank of 0.406. It has been cited 14 times.

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0.406DataRank · unranked

Scored on demand from live citation data

Open Access14 citations

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omim

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (9 grants)Impact (FWCI 2.05)OA: greenTopics (34)Linked Datasets (4)DataCite Reuse (4)IDs (PubMed, PMC, OpenAlex)Annotations (1)SDGs (2)

FAIR Checklist

Context only (not used in score)

Findable (2/2)

Has DOI
Indexed in repositories

Accessible (1/2)

Open Access

Interoperable (2/2)

DataCite relations
Linked datasets

Reusable (0/3)

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DataRank Breakdown

Base Score 100%Citation Network 0%

Base Score Contribution

0.406

From this paper's citation signal

Citation Network Contribution

Citation network not refreshed for this result

This paper's DataRank is currently driven only by its base citation score. Citation network data was not refreshed for this result.

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Authors (10)

Casey Ta ORCID,Jim M. Havrilla,Jordan G. Nestor ORCID,Matthew E. Spotnitz,Andrew S. Geneslaw ORCID

Live enrichment

PubMed:35998640 PMC:PMC9502051 OpenAlex:https://openalex.org/W4292633571

U.S. National Library of Medicine

Grant: R01LM012895

National Institutes of Health

Grant: OT2TR003434

NCATS NIH HHS

Grant: UL1 TR001873

NHGRI NIH HHS

Grant: U01 HG008680

NCATS NIH HHS

Grant: OT3 TR002027

NLM NIH HHS

Grant: T15 LM007079

National Institutes of Health

Grant: 3OT2TR003434-01S3

Translator Red Knowledge (TReK)

National Center for Advancing Translational Sciences

National Human Genome Research Institute

FWCI

2.05

Citation Percentile

0.9%

Citation Trend

2023

2024

2025

2026

greenLicense: Elsevier Non-Commercial

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/9502051

publisherhttps://api.elsevier.com/content/article/PII:S0002929722003196?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S0002929722003196?httpAccept=text/plain

journalhttps://doi.org/10.1016/j.ajhg.2022.08.002

Fields of Study

Genomics and Rare DiseasesBiomedical Text Mining and OntologiesBioinformatics and Genomic Networks0301 basic medicine0303 health sciences03 medical and health sciences

MeSH Terms

HumansNatural Language ProcessingPhenotypeRare DiseasesElectronic Health Records

Keywords

AnnotationComputer scienceDiseaseClinical phenotypePhenotypeRare diseaseOntologyResource (disambiguation)Computational biologyBiologyMedicineArtificial intelligenceGeneticsGenePathologyElectronic Health RecordsNatural Language ProcessingHuman Phenotype OntologyPhenotype AssociationKnowledge GraphOpen Data SharingRare DiseasesHumans

Sustainable Development Goals

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

Additional file 2 of Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies

10.6084/m9.figshare.25902422.v1figshare

Additional file 2 of Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies

10.6084/m9.figshare.25902422figshare

Additional file 1 of Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies

10.6084/m9.figshare.25902330.v1figshare

Additional file 1 of Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies

10.6084/m9.figshare.25902330figshare

OARD: Open annotations for rare diseases and their phenotypes based on real-world data

FAIR Checklist

DataRank Breakdown

Authors (10)

Funding (9 grants)

Impact

Open Access

Topics

Linked Datasets (4)

Annotations (Europe PMC)