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

Beacon v2 and Beacon networks: A "lingua franca" for federated data discovery in biomedical genomics, and beyond.

Human mutation - 1 Jun 2022

Rambla Jordi, Baudis Michael, Ariosa Roberto, Beck Tim, Fromont Lauren A, Navarro Arcadi, Paloots Rahel, Rueda Manuel, Saunders Gary, Singh Babita, Spalding John D, Törnroos Juha, Vasallo Claudia, Veal Colin D, Brookes Anthony J

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

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

Share to Genomics
Share to Information Dissemination

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Share to Rare Diseases

Share to Software

Source

Open in PubMed Open full text

Identifiers

PMID: 35297548
DOI: 10.1002/humu.24369
PMCID: PMC9322265

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Beacon v2 and Beacon networks: A "lingua franca" for federated data discovery in biomedical genomics, and beyond.PMID 35297548Read ↗

Use of Beacon v2 for Improving Genomics Based Research in a Clinical Setting.Semantic proximity Read ↗

Cafe Variome: general-purpose software for making genotype-phenotype data discoverable in restricted or open access contexts.Semantic proximity Read ↗

The Portuguese Beacon: sharing genomic variant data safely.Semantic proximity Read ↗

Variant-level matching for diagnosis and discovery: Challenges and opportunities.Semantic proximity Read ↗

GA4GH: International policies and standards for data sharing across genomic research and healthcareSemantic proximity Read ↗

Annotation and curation of human genomic variations: an ELIXIR Implementation StudySemantic proximity Read ↗

PatientMatcher: a customizable Python-based open-source tool for matching undiagnosed rare disease patients via the MatchMaker Exchange networkSemantic proximity Read ↗

PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.Semantic proximity Read ↗

The GA4GH Variation Representation Specification (VRS): a Computational Framework for the Precise Representation and Federated Identification of Molecular VariationSemantic proximity Read ↗

Seven years since the launch of the Matchmaker Exchange: the evolution of genomic matchmakingSemantic proximity Read ↗

Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking.Semantic proximity Read ↗

Recommendations for the FAIRification of genomic track metadataSemantic proximity Read ↗

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