Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Establishing a baseline for literature mining human genetic variants and their relationships to disease cohorts.

BMC medical informatics and decision making - 18 Jul 2016

Verspoor Karin M, Heo Go Eun, Kang Keun Young, Song Min

Abstract excerpt

BACKGROUND: The Variome corpus, a small collection of published articles about inherited colorectal cancer, includes annotations of 11 entity types and 13 relation types related to the curation of the relationship between genetic variation and disease. Due to the richness of these annotations, the corpus provides a good testbed for evaluation of biomedical literature information extraction systems. METHODS: In...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Colorectal Neoplasms
Share to Data Mining

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Databases, Genetic

Share to Genetic Variation

Source

Open in PubMed Open full text

Identifiers

PMID: 27454860
DOI: 10.1186/s12911-016-0294-3
PMCID: PMC4959367

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Establishing a baseline for literature mining human genetic variants and their relationships to disease cohorts.PMID 27454860Read ↗

Annotating the biomedical literature for the human variome.Semantic proximity Read ↗

Mutation extraction tools can be combined for robust recognition of genetic variants in the literatureSemantic proximity Read ↗

A mutation-centric approach to identifying pharmacogenomic relations in text.Semantic proximity Read ↗

DISEASES 2.0: a weekly updated database of disease–gene associations from text mining and data integrationSemantic proximity Read ↗

Text Mining Genotype-Phenotype Relationships from Biomedical Literature for Database Curation and Precision Medicine.Semantic proximity Read ↗

PheneBank: a literature-based database of phenotypes.Semantic proximity Read ↗

DISEASES: text mining and data integration of disease-gene associations.Semantic proximity Read ↗

A SNPshot of PubMed to associate genetic variants with drugs, diseases, and adverse reactions.Semantic proximity Read ↗

DISEASES: Text mining and data integration of disease–gene associationsSemantic proximity Read ↗

Literature mining of genetic variants for curation: quantifying the importance of supplementary material.Semantic proximity Read ↗

Expanding a Database-derived Biomedical Knowledge Graph via Multi-relation Extraction from Biomedical AbstractsSemantic proximity Read ↗

ProPheno 1.0: An online dataset for accelerating the complete characterization of the human protein-phenotype landscape in biomedical literatureSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.