ArticleNucleic acids research2017
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species.
Article in Nucleic acids research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 194 papers, 4 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
194 citing papers in PubMed, 4 syntheses or guidelines pooled it, 483 citations in OpenAlex.
- The Progenetix oncogenomic resource in 2021.Database : the journal of biological databases and curation · 2021Pooled it
- A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer.Nature genetics · 2020Pooled it
- Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.Genome medicine · 2019Pooled it
- Computational resources associating diseases with genotypes, phenotypes and exposures.Briefings in bioinformatics · 2019Pooled it
- Article
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- Systematic identification of rare disease patients in electronic health records enables evaluation of clinical outcomes.Scientific reports · 2026Article
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- Federated knowledge retrieval elevates large language model performance on biomedical benchmarks.GigaScience · 2026Article
- Using GPT-4 to annotate the severity of all phenotypic abnormalities within the human phenotype ontology.Frontiers in digital health · 2026Article
- Reconstructing the complex architecture of the genome with molecular scissors: applying genome editing technology in precision medicine.Frontiers in genome editing · 2026Review
- RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets.NPJ genomic medicine · 2025Article
- Development of a large language model-based knowledge graph for chemotherapy-induced nausea and vomiting in breast cancer and its implications for nursing.International journal of nursing sciences · 2025Article
- The FAIR AOP roadmap for 2025: Advancing findability, accessibility, interoperability, and re-usability of adverse outcome pathways.Computational toxicology (Amsterdam, Netherlands) · 2025Article
- BioRAGent: natural language biomedical querying with retrieval-augmented multiagent systems.Briefings in bioinformatics · 2025Article
- Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperability.medRxiv : the preprint server for health sciences · 2025Article
- Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.European journal of human genetics : EJHG · 2025Article
- A genome-wide association study of high-sensitivity C-reactive protein in a large Korean population highlights its genetic relationship with cholesterol metabolism.Scientific reports · 2025Article
- GREGoR: Accelerating Genomics for Rare Diseases.ArXiv · 2024Article
- Long-read proteogenomics to connect disease-associated sQTLs to the protein isoform effectors of disease.American journal of human genetics · 2024Article
134 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
26 authors at 8 institutions in 4 countries.
Funding
Abstract
The correlation of phenotypic outcomes with genetic variation and environmental factors is a core pursuit in biology and biomedicine. Numerous challenges impede our progress: patient phenotypes may not match known diseases, candidate variants may be in genes that have not been characterized, model organisms may not recapitulate human or veterinary diseases, filling evolutionary gaps is difficult, and many resources must be queried to find potentially significant genotype-phenotype associations. Non-human organisms have proven instrumental in revealing biological mechanisms. Advanced informatics tools can identify phenotypically relevant disease models in research and diagnostic contexts. Large-scale integration of model organism and clinical research data can provide a breadth of knowledge not available from individual sources and can provide contextualization of data back to these sources. The Monarch Initiative (monarchinitiative.org) is a collaborative, open science effort that aims to semantically integrate genotype-phenotype data from many species and sources in order to support precision medicine, disease modeling, and mechanistic exploration. Our integrated knowledge graph, analytic tools, and web services enable diverse users to explore relationships between phenotypes and genotypes across species.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.