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LEAP: Using machine learning to support variant classification in a clinical setting

Human Mutation(2020)10.1002/humu.24011Source: DataRank Database

LEAP: Using machine learning to support variant classification in a clinical setting is a research paper published in Human Mutation (2020). On theSindex it has a DataRank of 0. It has been cited 40 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access40 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (4 grants)OA: hybridTopics (40)IDs (PubMed, PMC)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 (9)

Anjali D. Zimmer ORCID,Robert O’Connor ORCID,Serra Kim,Raymond C. Chan ORCID,Jeroen van den Akker ORCID

Live enrichment

PubMed:32176384 PMC:PMC7317941

National Institutes of Health

Grant: U41 HG007346

National Institutes of Health

Grant: R13 HG006650

National Institutes of Health

Grant: 5U41HG007346-03

Center for Critical Assessment of Genome Interpretation

National Institutes of Health

Grant: 2R13HG006650-04

Critical Assessment of Genome Interpretation Conference

hybridLicense: cc-by-nc-nd

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.24011

publisherhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.24011

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24011

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/humu.24011

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/7317941

Fields of Study

0301 basic medicine0303 health sciences03 medical and health sciencesArea Under CurveCardiovascular DiseasesGenomicsHumansLogistic ModelsMachine LearningModels, GeneticModels, StatisticalMutation, MissenseNeoplasmsROC Curve

MeSH Terms

HumansNeoplasmsCardiovascular DiseasesArea Under CurveModels, StatisticalLogistic ModelsROC CurveGenomicsMutation, MissenseModels, GeneticMachine Learning

Keywords

Genetic TestingMachine LearningClinical GeneticsVariant ClassificationModels, StatisticalModels, GeneticMutation, MissenseGenomicsSpecial ArticleLogistic ModelsROC CurveCardiovascular DiseasesArea Under CurveNeoplasmsHumans

Sustainable Development Goals

SDG 3: 3. Good health