ArticleScientific data2022
FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research.
Article in Scientific data, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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
15 citing papers in PubMed.
- Translating multi-omics into healthcare: requisites for scalable and equitable implementation.Human genomics · 2026Review
- Psychosocial risk screening in the inpatient care of physically ill patients: study protocol for a feasibility study.BMJ open · 2026Article
- Semantic alignment of the German Human Genome-Phenome Archive metadata model in Europe's genomics field.Scientific data · 2026Article
- Multi-omics Quality Assessment in Personalized Medicine Through European Infrastructure for Translational Medicine (EATRIS): An Overview.Phenomics (Cham, Switzerland) · 2025Review
- Perceptual and technical barriers in sharing and formatting metadata accompanying omics studies.Cell genomics · 2025Review
- The current stage of Italy in the implementation of genomics into the National Healthcare System: an application of the B1MG maturity level model.Frontiers in public health · 2025Article
- FAIR Data Cube, a FAIR data infrastructure for integrated multi-omics data analysis.Journal of biomedical semantics · 2024Article
- FAIR Header Reference genome: a TRUSTworthy standard.Briefings in bioinformatics · 2024Article
- A multi-omics data analysis workflow packaged as a FAIR Digital Object.GigaScience · 2024Article
- An interconnected data infrastructure to support large-scale rare disease research.GigaScience · 2024Article
- Multiple graphical views for automatically generating SQL for the MycoDiversity DB; making fungal biodiversity studies accessible.Biodiversity data journal · 2024Article
- Article
- Advancing healthcare through data: the BETTER project's vision for distributed analytics.Frontiers in medicine · 2024Article
- Attitudes Toward Personal Health Data Sharing Among People Living With Sickle Cell Disorder, Exemplar for Study of Rare Disease Populations.Journal of patient-centered research and reviews · 2023Article
- Challenges to sharing sample metadata in computational genomics.Frontiers in genetics · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
24 authors.
Funding
Abstract
The genomes of thousands of individuals are profiled within Dutch healthcare and research each year. However, this valuable genomic data, associated clinical data and consent are captured in different ways and stored across many systems and organizations. This makes it difficult to discover rare disease patients, reuse data for personalized medicine and establish research cohorts based on specific parameters. FAIR Genomes aims to enable NGS data reuse by developing metadata standards for the data descriptions needed to FAIRify genomic data while also addressing ELSI issues. We developed a semantic schema of essential data elements harmonized with international FAIR initiatives. The FAIR Genomes schema v1.1 contains 110 elements in 9 modules. It reuses common ontologies such as NCIT, DUO and EDAM, only introducing new terms when necessary. The schema is represented by a YAML file that can be transformed into templates for data entry software (EDC) and programmatic interfaces (JSON, RDF) to ease genomic data sharing in research and healthcare. The schema, documentation and MOLGENIS reference implementation are available at https://fairgenomes.org .
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.