Pilot corpus: NIH-funded biomedical datasets. Any DOI can be scored on demand — network effects sharpen as coverage grows.

Critical assessment of missense variant effect predictors on disease-relevant variant data

Human Genetics(2025)10.1007/s00439-025-02732-2Source: DataRank Database

Critical assessment of missense variant effect predictors on disease-relevant variant data is a research paper published in Human Genetics (2025). On theSindex it has a DataRank of 0.596. It has been cited 24 times, with 19 citing works in its 1-hop citation network.

N/A

0.596DataRank · unranked

Scored on demand from live citation data

Open Access24 citations · 19 citing works in its network

Download PDF

Cite:

DataRank reads this dataset's downstream impact straight off the citation graph — no black box, no proprietary weighting. How is this computed?

›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (2 grants)Impact (FWCI 21.63)OA: hybridTopics (32)IDs (PubMed, PMC, OpenAlex)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

FAIR checklist signals are shown for context only and do not affect DataRank scoring.

Run a calibrated FAIR evaluation for this paper →

We only score data papers we can read in full — never from an abstract alone.

DataRank Breakdown

Base Score 81%Citation Network 19%

Base Score Contribution

0.483

From this paper's citation signal

Citation Network Contribution

0.114

From 6 citing papers with measurable signal

Learn more about DataRank methodology →

Top 5 citers driving the network score

Ranked by each citer's contribution to N(p) — log1p(C_q) divided by its reference count — out of 19 citers.

Guidelines for releasing a variant effect predictor
Genome biology202528 citations64 referencesContributes 0.053
Variant effect predictor correlation with functional assays is reflective of clinical classification performance
Genome biology202533 citations101 referencesContributes 0.035
A comprehensive framework for the interpretation of TTN missense variants
Genome Medicine20262 citations46 referencesContributes 0.024
Calibrated Variant Effect Prediction at the Residue Level Using Conditional Score Distributions
bioRxiv (Cold Spring Harbor Laboratory)20252 citations109 referencesContributes 0.010
MAVISp : A modular structure‐based framework for protein variant effects
Protein Science20262 citations142 referencesContributes 0.008

Authors (36)

Ryan Chung ORCID,Sindy Li,Chang Li ORCID,Kyoungyeul Lee ORCID,Junwoo Woo

Live enrichment

PubMed:40113603 PMC:PMC11976771 OpenAlex:https://openalex.org/W4408707833

National Institutes of Health

Grant: U01HG012022

National Institutes of Health

Grant: U24HG007346

FWCI

21.63

Citation Percentile

1.0%

Citation Trend

2025

2026

hybridLicense: cc-by

journalhttps://link.springer.com/content/pdf/10.1007/s00439-025-02732-2.pdf

publisherhttps://link.springer.com/content/pdf/10.1007/s00439-025-02732-2.pdf

publisherhttps://link.springer.com/article/10.1007/s00439-025-02732-2/fulltext.html

journalhttps://doi.org/10.1007/s00439-025-02732-2

repositoryhttps://pubmed.ncbi.nlm.nih.gov/40113603

Fields of Study

Genomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesCancer Genomics and DiagnosticsHumansMutation, MissenseComputational BiologyDatabases, GeneticGenetic Predisposition to DiseaseGene Frequency

MeSH Terms

Gene FrequencyHumansComputational BiologyGenetic Predisposition to DiseaseMutation, MissenseDatabases, Genetic

Keywords

Missense mutationBiologyHuman geneticsMeta-analysisPathogenicityDiseaseComputational biologyGeneticsAllelePrecision medicineBioinformaticsMachine learningGeneMutationComputer scienceInternal medicineMedicine