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Explicable prioritization of genetic variants by integration of rule-based and machine learning algorithms for diagnosis of rare Mendelian disorders

Human Genomics(2024)10.1186/s40246-024-00595-8Source: DataRank Database

Explicable prioritization of genetic variants by integration of rule-based and machine learning algorithms for diagnosis of rare Mendelian disorders is a research paper published in Human Genomics (2024). On theSindex it has a DataRank of 0. It has been cited 7 times.

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Open Access7 citations

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Enrichment:Funding (2 grants)Impact (FWCI 2.65)OA: goldTopics (32)IDs (PubMed, PMC, OpenAlex)Annotations (1)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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Authors (4)

Dongwook Kim ORCID,Junwoo Woo,Kyoungyeul Lee ORCID,Ho Heon Kim ORCID

Live enrichment

PubMed:38509596 PMC:PMC10956189 OpenAlex:https://openalex.org/W4393053960

NHGRI NIH HHS

Grant: U24 HG007346

3billion

FWCI

2.65

Citation Percentile

0.9%

Citation Trend

2024

2025

goldLicense: cc-by

journalhttps://humgenomics.biomedcentral.com/counter/pdf/10.1186/s40246-024-00595-8

publisherhttps://humgenomics.biomedcentral.com/counter/pdf/10.1186/s40246-024-00595-8

publisherhttps://link.springer.com/content/pdf/10.1186/s40246-024-00595-8.pdf

publisherhttps://link.springer.com/article/10.1186/s40246-024-00595-8/fulltext.html

journalhttps://doi.org/10.1186/s40246-024-00595-8

Fields of Study

Genomics and Rare DiseasesGenetic Associations and EpidemiologyBiomedical Text Mining and Ontologies

MeSH Terms

Machine LearningAlgorithmsGenetic TestingHistone DeacetylasesHumansRepressor ProteinsGenetic VariationRare Diseases

Keywords

In silicoMachine learningPrioritizationComputer sciencePrecision and recallArtificial intelligenceGenomicsComputational biologyOMIM : Online Mendelian Inheritance in ManMedical geneticsBioinformaticsBiologyGeneData miningGenomeGeneticsPhenotypeMendelian DisorderVariant PrioritizationExplainable AiClinical Genome Interpretation

Sustainable Development Goals

SDG 0: Life in Land

Explicable prioritization of genetic variants by integration of rule-based and machine learning algorithms for diagnosis of rare Mendelian disorders

FAIR Checklist

Authors (4)

Funding (2 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)