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Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.02.018Source: DataRank Database

Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results is a research paper published in The American Journal of Human Genetics (2025). On theSindex it has a DataRank of 0.312. It has been cited 7 times.

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0.312DataRank · unranked

Scored on demand from live citation data

7 citations

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refsnp omim refseq doi

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (8 grants)Impact (FWCI 6.25)OA: hybridTopics (29)IDs (PubMed, PMC, OpenAlex)Annotations (4)SDGs (1)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (0/2)

Interoperable (0/2)

Reusable (0/3)

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DataRank Breakdown

Base Score 100%Citation Network 0%

Base Score Contribution

0.312

From this paper's citation signal

Citation Network Contribution

Citation network not refreshed for this result

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Authors (16)

Lucija Klaric,Marisa D. Muckian ORCID,Kiera Johnston,Camilla Drake,Mihail Halachev

Live enrichment

PubMed:40088892 PMC:PMC12081267 OpenAlex:https://openalex.org/W4408446800

Wellcome Trust

Grant: 222060/Z/20/Z

British Heart Foundation

Grant: RE/18/4/34215

Wellcome Trust

UK Research and Innovation Medical Research Council

British Heart Foundation

Research Councils UK

Sir Jules Thorn Charitable Trust

Chief Scientist Office

FWCI

6.25

Citation Percentile

1.0%

Citation Trend

2025

2026

hybridLicense: cc-by

journalhttps://doi.org/10.1016/j.ajhg.2025.02.018

publisherhttps://doi.org/10.1016/j.ajhg.2025.02.018

repositoryhttps://pubmed.ncbi.nlm.nih.gov/40088892

repositoryhttps://www.research.ed.ac.uk/en/publications/ae3d1845-c686-484d-b0ba-6b57b008ccb3

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/12081267

Fields of Study

Genomics and Rare DiseasesGenetic Associations and EpidemiologyBRCA gene mutations in cancer

MeSH Terms

AdultFemaleGenetic TestingGenotypeHumansMaleMiddle AgedScotlandGenetic VariationCohort StudiesFounder EffectExome

Keywords

ShetlandFounder effectGenealogyGeneticsHistoryBiologyGeographyGenotypeGeneHaplotypeReturn Of ResultsExomesOrkneyActionable Variant

Sustainable Development Goals

SDG 0: Reduced inequalities

Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results

FAIR Checklist

DataRank Breakdown

Authors (16)

Funding (8 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)