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VarPPUD: Pinpointing diagnostic variants from sets of prioritized, strong candidate variants

PLoS Computational Biology(2025)10.1371/journal.pcbi.1013414Source: DataRank Database

VarPPUD: Pinpointing diagnostic variants from sets of prioritized, strong candidate variants is a research paper published in PLoS Computational Biology (2025). On theSindex it has a DataRank of 0.

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (2 grants)OA: goldTopics (21)IDs (PubMed, PMC)

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Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (5)

Alba Gutiérrez‐Sacristán ORCID,Undiagnosed Diseases Network,Shilpa N. Kobren ORCID,Paul Avillach ORCID,Rui Yin ORCID

Live enrichment

PubMed:40982570 PMC:PMC12468739

National Institutes of Health

Grant: U01HG007530

National Institutes of Health

Grant: 5U01HG007530-03

Coordinating Center for the Undiagnosed Diseases Network

goldLicense: cc-by

publisherhttps://proceedings.neurips.cc/paper_files/paper/2019/file/254ed7d2de3b23ab10936522dd547b78-Paper.pdf

publisherhttps://dx.plos.org/10.1371/journal.pcbi.1013414

repositoryhttps://doaj.org/article/2198246749ec464c8f053d69e7d57685

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/12468739

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC12468739/

Fields of Study

0303 health sciences03 medical and health sciencesHumansComputational BiologyGenetic VariationGenetic Predisposition to DiseaseSoftwareRare Diseases

MeSH Terms

HumansGenetic Predisposition to DiseaseRare DiseasesComputational BiologySoftwareGenetic Variation

Keywords

Rare DiseasesHumansComputational BiologyGenetic VariationGenetic Predisposition to DiseaseSoftwareResearch Article