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Prioritizing genomic variants pathogenicity via DNA, RNA, and protein-level features based on extreme gradient boosting

Human Genetics(2024)10.1007/s00439-024-02667-0Source: DataRank Database

Prioritizing genomic variants pathogenicity via DNA, RNA, and protein-level features based on extreme gradient boosting is a research paper published in Human Genetics (2024). On theSindex it has a DataRank of 0. It has been cited 2 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access2 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (3 grants)Impact (FWCI 0.77)OA: greenTopics (45)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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Authors (4)

Ken Chen ORCID,Yuedong Yang ORCID,Ronggui Hu ORCID,Maolin Ding ORCID

Live enrichment

PubMed:38575818 OpenAlex:https://openalex.org/W4393952092

National Natural Science Foundation of China

Grant: 81971190

National Institutes of Health

Grant: 5U24HG007346-08

Center for Critical Assessment of Genome Interpretation

NHGRI NIH HHS

Grant: U24 HG007346

FWCI

0.77

Citation Percentile

0.7%

Citation Trend

2025

2026

greenLicense: Springer Nature TDM

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC12185218/pdf/nihms-2083966.pdf

publisherhttps://link.springer.com/content/pdf/10.1007/s00439-024-02667-0.pdf

publisherhttps://link.springer.com/article/10.1007/s00439-024-02667-0/fulltext.html

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/12185218

Fields of Study

Genomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology0301 basic medicine03 medical and health sciencesHumansGenetic VariationRNADNAGenomicsComputational BiologyProteinsGenome, HumanMutation, MissenseGenetic Predisposition to Disease

MeSH Terms

DNAHumansProteinsRNAGenetic VariationGenome, HumanComputational BiologyGenetic Predisposition to DiseaseMutation, MissenseGenomics

Keywords

BiologyMissense mutationGeneticsComputational biologyRNA splicingCoding regionGenomeNoncoding DNAPhenotypeRNAGeneGenome, HumanMutation, MissenseGenetic VariationProteinsDNAGenomicsHumansReproductive medicineGenetic Predisposition to Disease

Sustainable Development Goals

SDG 0: Reduced inequalities