ArticleCell genomics2021
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification.
Article in Cell genomics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 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
48 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The Progenetix oncogenomic resource in 2021.Database : the journal of biological databases and curation · 2021Pooled it
- Population Frequencies of VWD-Associated Genotypes: Cross-Resource Evidence from RGC-ME and gnomAD.International journal of molecular sciences · 2026Article
- Taming the reference genome jungle: the refget sequence collection standard.Bioinformatics (Oxford, England) · 2026Article
- Translating genomic data into healthcare practice with the Singapore National Precision Medicine program.Nature genetics · 2026Review
- The GA4GH Categorical Variation Representation Specification: A Unified Computational Framework for Reasoning over Genomic Variant Categories.bioRxiv : the preprint server for biology · 2026Article
- ClinGen API platform for classification of human genetic variants.Cell genomics · 2026Article
- Mondo: integrating disease terminology across communities.Genetics · 2026Article
- Convergence of machine learning and genomics for precision oncology.Nature reviews. Cancer · 2026Review
- The European Health Data Space and biobanking in Europe: synergies, tensions and the future governance of data-driven health research.Frontiers in genetics · 2026Review
- A graph-based approach to variant description extraction from sequences.NAR genomics and bioinformatics · 2025Article
- MaveMD: A functional data resource for genomic medicine.medRxiv : the preprint server for health sciences · 2025Article
- GREGoR: accelerating genomics for rare diseases.Nature · 2025Article
- Taming the reference genome jungle: the refget sequence collection standard.bioRxiv : the preprint server for biology · 2025Article
- Advancing the science of genomic learning healthcare systems.Learning health systems · 2025Article
- Genetic data normalization for genomic medicine: a Fast Healthcare Interoperability Resources Genomics reference implementation.Journal of the American Medical Informatics Association : JAMIA · 2025Article
- Informatics at the Frontier of Cancer Research.Cancer research · 2025Review
- Mapping MAVE data for use in human genomics applications.Genome biology · 2025Article
- SARS-CoV-2 genomic contextual data harmonization: recommendations from a mixed methods analysis of COVID-19 case report forms across Canada.Archives of public health = Archives belges de sante publique · 2025Article
- Guidelines for releasing a variant effect predictor.Genome biology · 2025Article
- A call to action to scale up research and clinical genomic data sharing.Nature reviews. Genetics · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
28 authors.
Funding
Abstract
Maximizing the personal, public, research, and clinical value of genomic information will require the reliable exchange of genetic variation data. We report here the Variation Representation Specification (VRS, pronounced "verse"), an extensible framework for the computable representation of variation that complements contemporary human-readable and flat file standards for genomic variation representation. VRS provides semantically precise representations of variation and leverages this design to enable federated identification of biomolecular variation with globally consistent and unique computed identifiers. The VRS framework includes a terminology and information model, machine-readable schema, data sharing conventions, and a reference implementation, each of which is intended to be broadly useful and freely available for community use. VRS was developed by a partnership among national information resource providers, public initiatives, and diagnostic testing laboratories under the auspices of the Global Alliance for Genomics and Health (GA4GH).
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.