ArticleHuman mutation2022
Beacon v2 and Beacon networks: A "lingua franca" for federated data discovery in biomedical genomics, and beyond.
Article in Human mutation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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
31 citing papers in PubMed.
- Cancer genomic data systems in precision oncology: from integration to clinical implementation.EBioMedicine · 2026Review
- Enhancing semantic interoperability in precision medicine: converting OMOP CDM to Beacon v2 in the Spanish IMPaCT-Data project.BMC medical informatics and decision making · 2026Article
- Toward a Common Set of Interface Requirements for Genomic Data Management: Scoping Review.Journal of medical Internet research · 2026Article
- WiNGS-API: a federated genome/phenome data sharing platform enabling gene discovery and variant classification for rare diseases.Genome medicine · 2026Article
- The Portuguese Beacon: sharing genomic variant data safely.Database : the journal of biological databases and curation · 2026Article
- The European Health Data Space and biobanking in Europe: synergies, tensions and the future governance of data-driven health research.Frontiers in genetics · 2026Review
- Federated, governed, and interoperable? The emerging architecture of public human genomic data infrastructures: a European perspective.Frontiers in genetics · 2026Review
- Federated causal discovery in medicine: trends, opportunities, and challenges.Frontiers in digital health · 2026Article
- Rethinking scale in AI-driven genomic medicine - The role of small biobanks.Frontiers in genetics · 2026Article
- MINDDS-connect: a federated data platform integrating biobanks for meta cohort building and analysis.European journal of human genetics : EJHG · 2025Article
- A call to action to scale up research and clinical genomic data sharing.Nature reviews. Genetics · 2025Review
- Article
- Cancer genomics and bioinformatics in Latin American countries: applications, challenges, and perspectives.Frontiers in oncology · 2025Review
- FAIR Data Cube, a FAIR data infrastructure for integrated multi-omics data analysis.Journal of biomedical semantics · 2024Article
- Pheno-Ranker: a toolkit for comparison of phenotypic data stored in GA4GH standards and beyond.BMC bioinformatics · 2024Article
- A roadmap for a middleware as a federation service for integrative data retrieval of agricultural data.Journal of integrative bioinformatics · 2024Article
- REEV: review, evaluate and explain variants.Nucleic acids research · 2024Article
- cancercelllines.org-a novel resource for genomic variants in cancer cell lines.Database : the journal of biological databases and curation · 2024Article
- Improving prenatal diagnosis through standards and aggregation.Prenatal diagnosis · 2024Review
- Twelve quick tips for deploying a Beacon.PLoS computational biology · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors.
Funding
Abstract
Beacon is a basic data discovery protocol issued by the Global Alliance for Genomics and Health (GA4GH). The main goal addressed by version 1 of the Beacon protocol was to test the feasibility of broadly sharing human genomic data, through providing simple "yes" or "no" responses to queries about the presence of a given variant in datasets hosted by Beacon providers. The popularity of this concept has fostered the design of a version 2, that better serves real-world requirements and addresses the needs of clinical genomics research and healthcare, as assessed by several contributing projects and organizations. Particularly, rare disease genetics and cancer research will benefit from new case level and genomic variant level requests and the enabling of richer phenotype and clinical queries as well as support for fuzzy searches. Beacon is designed as a "lingua franca" to bridge data collections hosted in software solutions with different and rich interfaces. Beacon version 2 works alongside popular standards like Phenopackets, OMOP, or FHIR, allowing implementing consortia to return matches in beacon responses and provide a handover to their preferred data exchange format. The protocol is being explored by other research domains and is being tested in several international projects.
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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.