ArticleCold Spring Harbor molecular case studies2018
Points to consider for sharing variant-level information from clinical genetic testing with ClinVar.
Article in Cold Spring Harbor molecular case studies, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
What it found
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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, 1 synthesis or guideline pooled it.
- Systematic Review of Privacy-Preserving Distributed Machine Learning From Federated Databases in Health Care.JCO clinical cancer informatics · 2020Pooled it
- Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework.Genetics in medicine : official journal of the American College of Medical Genetics · 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
- 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
- Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.bioRxiv : the preprint server for biology · 2024Article
- High-throughput assays to assess variant effects on disease.Disease models & mechanisms · 2024Article
- Federated Analysis for Privacy-Preserving Data Sharing: A Technical and Legal Primer.Annual review of genomics and human genetics · 2023Review
- 2022 Curt Stern Award: Advancing genomic medicine through collaboration and data sharing.American journal of human genetics · 2023Article
- The Roles of Par3, Par6, and aPKC Polarity Proteins in Normal Neurodevelopment and in Neurodegenerative and Neuropsychiatric Disorders.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2022Review
- Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.Journal of medical genetics · 2022Article
- Sharing genetic variants with the NGS pipeline is essential for effective genomic data sharing and reproducibility in health information exchange.Scientific reports · 2021Article
- From Theory to Reality: Establishing a Successful Kidney Genetics Clinic in the Outpatient Setting.Kidney360 · 2020Article
- How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules forHaematologica · 2020Review
- Rethinking the ethical principles of genomic medicine services.European journal of human genetics : EJHG · 2020Article
- Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.BMC cancer · 2019Article
- Variant data sharing by clinical laboratories through public databases: consent, privacy and further contact for research policies.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Genomic variant sharing: a position statement.Wellcome open research · 2019Article
- Somatic variants of potential clinical significance in the tumors ofHereditary cancer in clinical practice · 2019Article
- ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.Human mutation · 2018Article
- The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants.Human mutation · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
Abstract
Data sharing between laboratories, clinicians, researchers, and patients is essential for improvements and standardization in genomic medicine; encouraging genomic data sharing (GDS) is a key activity of the National Institutes of Health (NIH)-funded Clinical Genome Resource (ClinGen). The ClinGen initiative is dedicated to evaluating the clinical relevance of genes and variants for use in precision medicine and research. Currently, data originating from each of the aforementioned stakeholder groups is represented in ClinVar, a publicly available repository of genomic variation, and its relationship to human health hosted by the National Center for Biotechnology Information at the NIH. Although policies such as the 2014 NIH GDS policy are clear regarding the mandate for informed consent for broad data sharing from research participants, no clear guidance exists on the level of consent appropriate for the sharing of information obtained through clinical testing to advance knowledge. ClinGen has collaborated with ClinVar and the National Human Genome Research Institute to develop points to consider for clinical laboratories on sharing de-identified variant-level data in light of both the NIH GDS policy and the recent updates to the Common Rule. We propose specific data elements from interpreted genomic variants that are appropriate for submission to ClinVar when direct patient consent was not sought and describe situations in which obtaining informed consent is recommended.
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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.