ArticleGenetics2016
Navigating the Phenotype Frontier: The Monarch Initiative.
Article in Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
52 citing papers in PubMed, 1 synthesis or guideline pooled it.
- OMAMO: orthology-based alternative model organism selection.Bioinformatics (Oxford, England) · 2022Pooled it
- Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- A Multimodal Biomedical Transformer Fusion Network for Disease-Level Rare-Disease-Inheritance Classification Using Ontology-Enriched Text, Metadata, and Gene Associations.Biomedicines · 2026Article
- The ROBOKOP v1.0 knowledge graph system for exploring relationships between biomedical entities.Scientific reports · 2026Article
- Mapping whole-organism genetic comorbidities across model Species using unified ontologies.Genetics · 2026Article
- Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- The mutant mouse resource and research center (MMRRC) consortium: the US-based public mouse repository system.Mammalian genome : official journal of the International Mammalian Genome Society · 2024Review
- Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.Human genomics · 2024Article
- Prioritization of oligogenic variant combinations in whole exomes.Bioinformatics (Oxford, England) · 2024Article
- Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.medRxiv : the preprint server for health sciences · 2024Article
- Inborn Errors of Immunity Contribute to the Burden of Skin Disease and Create Opportunities for Improving the Practice of Dermatology.The Journal of investigative dermatology · 2024Article
- Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans.Nature reviews. Genetics · 2024Review
- Understanding the molecular mechanisms of human diseases: the benefits of fission yeasts.Microbial cell (Graz, Austria) · 2024Article
- Evaluation of Density-Based Spatial Clustering for Identifying Genomic Loci Associated with Ischemic Stroke in Genome-Wide Data.International journal of molecular sciences · 2023Article
- Lateral thinking in syndromic congenital cardiovascular disease.Disease models & mechanisms · 2023Article
- Linking rare and common disease vocabularies by mapping between the human phenotype ontology and phecodes.JAMIA open · 2023Article
- Multilingual translation for zero-shot biomedical classification using BioTranslator.Nature communications · 2023Article
- RTX-KG2: a system for building a semantically standardized knowledge graph for translational biomedicine.BMC bioinformatics · 2022Article
- MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants.Human mutation · 2022Article
- seqr: A web-based analysis and collaboration tool for rare disease genomics.Human mutation · 2022Article
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.
Funding
Abstract
The principles of genetics apply across the entire tree of life. At the cellular level we share biological mechanisms with species from which we diverged millions, even billions of years ago. We can exploit this common ancestry to learn about health and disease, by analyzing DNA and protein sequences, but also through the observable outcomes of genetic differences, i.e. phenotypes. To solve challenging disease problems we need to unify the heterogeneous data that relates genomics to disease traits. Without a big-picture view of phenotypic data, many questions in genetics are difficult or impossible to answer. The Monarch Initiative (https://monarchinitiative.org) provides tools for genotype-phenotype analysis, genomic diagnostics, and precision medicine across broad areas of disease.
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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.