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Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

medRxiv(2023)10.1101/2023.12.20.23300294Source: DataRank Database

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data is a research paper published in medRxiv (2023). On theSindex it has a DataRank of 0.208. It has been cited 3 times.

N/A

0.208DataRank · unranked

Scored on demand from live citation data

Open Access3 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (11 grants)OA: greenTopics (20)IDs (PubMed, OpenAlex)SDGs (1)

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 100%Citation Network 0%

Base Score Contribution

0.208

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 (61)

Letizia Vestito ORCID,Emma Magavern ORCID,Julius O.B. Jacobsen ORCID,Gavin Arno ORCID,Elijah R. Behr ORCID

Live enrichment

PubMed:38196618 OpenAlex:https://openalex.org/W4390110942

Medical Research Council

Grant: MR/X004597/1

Wellcome Trust

Grant: 207556/Z/17/Z

Medical Research Council

Grant: MR/S031820/1

Medical Research Council

Grant: MC_PC_14089

Medical Research Council

Grant: MR/M009203/1

Medical Research Council

Grant: MR/S021329/1

NHGRI NIH HHS

Grant: RM1 HG010860

Medical Research Council

Grant: MC_EX_MR/M009203/1

Medical Research Council

Grant: MC_UP_1102/20

Medical Research Council

Grant: MR/N008324/1

Cancer Research UK

Grant: 25514

green

repositoryhttps://www.medrxiv.org/content/medrxiv/early/2023/12/21/2023.12.20.23300294.full.pdf

GREENhttps://www.medrxiv.org/content/medrxiv/early/2023/12/21/2023.12.20.23300294.full.pdf

repositoryhttps://www.medrxiv.org/content/medrxiv/early/2023/12/21/2023.12.20.23300294.full.pdf

publisherhttps://syndication.highwire.org/content/doi/10.1101/2023.12.20.23300294

repositoryhttp://dx.doi.org/10.1101/2023.12.20.23300294

Fields of Study

Cardiomyopathy and Myosin StudiesGenomics and Rare DiseasesCongenital heart defects researchMedicineBiology

Keywords

DiseaseGenetic associationGenome-wide association studyMedicineBioinformaticsLocus heterogeneityIn silicoGeneticsBiologyPhenotypeGenetic heterogeneityGenePathologySingle-nucleotide polymorphismGenotype

Sustainable Development Goals

SDG 0: Good health and well-being