ArticleWellcome open research2019
Genomic variant sharing: a position statement.
Article in Wellcome open research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 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
22 citing papers in PubMed, 31 citations in OpenAlex.
- Genomic Strategies in Pediatric Care: Addressing Rare Diseases in Children.Children (Basel, Switzerland) · 2026Review
- Putative breast cancer risk variants from populations of South Asian ancestry are under-represented in public variant classification databases.Breast cancer research : BCR · 2026Article
- Key Outcomes from a Stakeholder Workshop on Genomic Newborn Screening: Recommended Next Steps for the Integration of Genomics into Public Health Programs.Public health genomics · 2026Article
- EndoGene database: reported genetic variants for 5,926 Russian patients diagnosed with endocrine disorders.Frontiers in endocrinology · 2025Article
- Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.Database : the journal of biological databases and curation · 2024Article
- Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.bioRxiv : the preprint server for biology · 2024Article
- Federated Analysis for Privacy-Preserving Data Sharing: A Technical and Legal Primer.Annual review of genomics and human genetics · 2023Review
- Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians.European journal of human genetics : EJHG · 2023Article
- Ethical Considerations in Research with Genomic Data.The New bioethics : a multidisciplinary journal of biotechnology and the body · 2023Article
- Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.American journal of human genetics · 2022Review
- Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.Journal of medical genetics · 2022Article
- Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort.Cell genomics · 2022Article
- Sequencing-based genome-wide association studies reporting standards.Cell genomics · 2021Article
- Understanding the genetics of adult-onset dilated cardiomyopathy: what a clinician needs to know.European heart journal · 2021Review
- Where Does Open Science Lead Us During a Pandemic? A Public Good Argument to Prioritize Rights in the Open Commons.Cambridge quarterly of healthcare ethics : CQ : the international journal of healthcare ethics committees · 2021Article
- Rethinking the ethical principles of genomic medicine services.European journal of human genetics : EJHG · 2020Article
- Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes.The Journal of clinical investigation · 2020Article
- A Review on the Challenges in Indian Genomics Research for Variant Identification and Interpretation.Frontiers in genetics · 2020Review
- Genomic Sequencing Capacity, Data Retention, and Personal Access to Raw Data in Europe.Frontiers in genetics · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 5 institutions in 2 countries.
Funding
Abstract
Sharing de-identified genetic variant data is essential for the practice of genomic medicine and is demonstrably beneficial to patients. Robust genetic diagnoses that inform medical management cannot be made accurately without reference to genetic test results from other patients, as well as population controls. Errors in this process can result in delayed, missed or erroneous diagnoses, leading to inappropriate or missed medical interventions for the patient and their family. The benefits of sharing individual genetic variants, and the harms of
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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.