ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 26 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
26 citing papers in PubMed.
- WiNGS-API: a federated genome/phenome data sharing platform enabling gene discovery and variant classification for rare diseases.Genome medicine · 2026Article
- Sequencing and health data resource of children of African ancestry.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Unlocking the potential of Asian genomic data: a collaborative framework for precision medicine innovation.GigaScience · 2026Review
- Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort.NPJ genomic medicine · 2025Article
- Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.NPJ genomic medicine · 2024Article
- Cumulus: a federated electronic health record-based learning system powered by Fast Healthcare Interoperability Resources and artificial intelligence.Journal of the American Medical Informatics Association : JAMIA · 2024Article
- Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort.medRxiv : the preprint server for health sciences · 2024Article
- Cumulus: A federated EHR-based learning system powered by FHIR and AI.medRxiv : the preprint server for health sciences · 2024Article
- Federated Analysis for Privacy-Preserving Data Sharing: A Technical and Legal Primer.Annual review of genomics and human genetics · 2023Review
- Algorithmic fairness in artificial intelligence for medicine and healthcare.Nature biomedical engineering · 2023Review
- Federated learning with hyper-network-a case study on whole slide image analysis.Scientific reports · 2023Article
- Improving child health through Big Data and data science.Pediatric research · 2023Review
- Functional genomics data: privacy risk assessment and technological mitigation.Nature reviews. Genetics · 2022Review
- An atomic approach to the design and implementation of a research data warehouse.Journal of the American Medical Informatics Association : JAMIA · 2022Article
- Federated learning for computational pathology on gigapixel whole slide images.Medical image analysis · 2022Article
- Clinical Utility of Genomic Testing in Cancer Care.JCO precision oncology · 2022Article
- Microbiome Forensic Biobanking: A Step toward Microbial Profiling for Forensic Human Identification.Healthcare (Basel, Switzerland) · 2021Article
- Oocyte Biobanks: Old Assumptions and New Challenges.Biotech (Basel (Switzerland)) · 2021Article
- GenoPheno: cataloging large-scale phenotypic and next-generation sequencing data within human datasets.Briefings in bioinformatics · 2021Review
- Infrastructuring an organizational node for a federated research and data network: A case study from a sociotechnical perspective.Journal of clinical and translational science · 2021Article
Corrections and comments
- Erratum issued
Authors and funding
32 authors.
Funding
Abstract
purposeClinicians and researchers must contextualize a patient's genetic variants against population-based references with detailed phenotyping. We sought to establish globally scalable technology, policy, and procedures for sharing biosamples and associated genomic and phenotypic data on broadly consented cohorts, across sites of care.
methodsThree of the nation's leading children's hospitals launched the Genomic Research and Innovation Network (GRIN), with federated information technology infrastructure, harmonized biobanking protocols, and material transfer agreements. Pilot studies in epilepsy and short stature were completed to design and test the collaboration model.
resultsHarmonized, broadly consented institutional review board (IRB) protocols were approved and used for biobank enrollment, creating ever-expanding, compatible biobanks. An open source federated query infrastructure was established over genotype-phenotype databases at the three hospitals. Investigators securely access the GRIN platform for prep to research queries, receiving aggregate counts of patients with particular phenotypes or genotypes in each biobank. With proper approvals, de-identified data is exported to a shared analytic workspace. Investigators at all sites enthusiastically collaborated on the pilot studies, resulting in multiple publications. Investigators have also begun to successfully utilize the infrastructure for grant applications.
conclusionsThe GRIN collaboration establishes the technology, policy, and procedures for a scalable genomic research network.
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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.