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

Identifying genotype-phenotype relationships in biomedical text.

Journal of biomedical semantics - 6 Dec 2017

Khordad Maryam, Mercer Robert E

Abstract excerpt

BACKGROUND: One important type of information contained in biomedical research literature is the newly discovered relationships between phenotypes and genotypes. Because of the large quantity of literature, a reliable automatic system to identify this information for future curation is essential. Such a system provides important and up to date data for database construction and updating, and even text...

Read the complete abstract on PubMed

Topics

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

Share to Biological Ontologies
Share to Biomedical Research
Share to Databases, Factual

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genotype

Share to Machine Learning

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 29212530
DOI: 10.1186/s13326-017-0163-8
PMCID: PMC5719522

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identifying genotype-phenotype relationships in biomedical text.PMID 29212530Read ↗

Closing the genotype-phenotype gap. Findings from the section on bioinformatics.Semantic proximity Read ↗

Biomedical literature-based clinical phenotype definition discovery using large language models.Semantic proximity Read ↗

Mining skeletal phenotype descriptions from scientific literature.Semantic proximity Read ↗

Linking common human diseases to their phenotypes; development of a resource for human phenomics.Semantic proximity Read ↗

Using Human Phenotype Ontology for Phenotypic Analysis of Clinical Notes.Semantic proximity Read ↗

A review of approaches to identifying patient phenotype cohorts using electronic health records.Semantic proximity Read ↗

Validating gene-phenotype associations using relationships in the UMLSSemantic proximity Read ↗

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

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

Informatics and machine learning to define the phenotype.Semantic proximity Read ↗

Extracting phenotypic information from the literature via natural language processing.Semantic proximity Read ↗

PGxCorpus: a Manually Annotated Corpus for PharmacogenomicsSemantic proximity Read ↗

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