ArticleAdvanced genetics (Hoboken, N.J.)2023
GA4GH Phenopackets: A Practical Introduction.
Article in Advanced genetics (Hoboken, N.J.), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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
13 citing papers in PubMed.
- GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.American journal of human genetics · 2026Article
- Making genomic data FAIR through effective Data Portals.Scientific data · 2025Article
- The ICGC ARGO data dictionary for standardizing global cancer clinical data.Scientific data · 2025Article
- Oncopacket: integration of cancer research data using GA4GH phenopackets.Bioinformatics (Oxford, England) · 2025Article
- FAIR Data Cube, a FAIR data infrastructure for integrated multi-omics data analysis.Journal of biomedical semantics · 2024Article
- Converting OMOP CDM to phenopackets: A model alignment and patient data representation evaluation.Journal of biomedical informatics · 2024Article
- A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery.medRxiv : the preprint server for health sciences · 2024Article
- Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.NPJ genomic medicine · 2024Article
- Improving prenatal diagnosis through standards and aggregation.Prenatal diagnosis · 2024Review
- The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease.Med (New York, N.Y.) · 2023Article
- Current aspects in biobanking for personalized oncology investigations and treatments.Medicine and pharmacy reports · 2023Review
- GA4GH Phenopackets: A Practical Introduction.Advanced genetics (Hoboken, N.J.) · 2023Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors.
Funding
Abstract
The Global Alliance for Genomics and Health (GA4GH) is developing a suite of coordinated standards for genomics for healthcare. The Phenopacket is a new GA4GH standard for sharing disease and phenotype information that characterizes an individual person, linking that individual to detailed phenotypic descriptions, genetic information, diagnoses, and treatments. A detailed example is presented that illustrates how to use the schema to represent the clinical course of a patient with retinoblastoma, including demographic information, the clinical diagnosis, phenotypic features and clinical measurements, an examination of the extirpated tumor, therapies, and the results of genomic analysis. The Phenopacket Schema, together with other GA4GH data and technical standards, will enable data exchange and provide a foundation for the computational analysis of disease and phenotype information to improve our ability to diagnose and conduct research on all types of disorders, including cancer and rare diseases.
Indexed as
Identifiers
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.