ArticleAmerican journal of human genetics2019
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.
Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 85 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
85 citing papers in PubMed, 1 synthesis or guideline pooled it, 115 citations in OpenAlex.
- Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.Kidney international · 2022Guideline
- Assessment of the adequacy of the Fast Healthcare Interoperability Resources (FHIR) Genomics standard for the representation of somatic testing reports.JAMIA open · 2026Article
- Urobiota analysis and genome-wide association study in pediatric recurrent urinary tract infections and vesicoureteral reflux.JCI insight · 2026Article
- GREB1 as a Context-Dependent Molecular Switch in Endometrial Estrogen-Progesterone Crosstalk: From Physiological Receptivity to Endometriosis Pathogenesis-A Narrative Review.International journal of women's health · 2026Review
- Functional Profiling ofCirculation. Genomic and precision medicine · 2025Article
- Systematic method for classifying multiple congenital anomaly cases in electronic health records.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Troponin I - a comprehensive review of its function, structure, evolution, and role in muscle diseases.Animal cells and systems · 2025Review
- Engaging adolescents and young adults in decisions about return of genomic research results: study protocol for a mixed-methods longitudinal clinical trial protocol.BMC medical informatics and decision making · 2024Article
- GWAS highlights the neuronal contribution to multiple sclerosis susceptibility.medRxiv : the preprint server for health sciences · 2024Article
- Negative results from DNA-based population screening for adult-onset diseases: the recipients' experience.Journal of community genetics · 2024Article
- Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for adult screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Identifying the capabilities for creating next-generation registries: a guide for data leaders and a case for "registry science".Journal of the American Medical Informatics Association : JAMIA · 2024Article
- Genetic sex validation for sample tracking in next-generation sequencing clinical testing.BMC research notes · 2024Article
- The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.Communications biology · 2024Article
- Tracking updates in clinical databases increases efficiency for variant reanalysis.Genetics in medicine open · 2024Article
- Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.Nature communications · 2023Article
- Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.American journal of human genetics · 2023Article
- Genomic medicine to reduce tobacco and related disorders: Translation to precision prevention and treatment.Addiction neuroscience · 2023Article
- Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon.American journal of human genetics · 2023Article
- Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results.Circulation. Genomic and precision medicine · 2023Article
25 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
The advancement of precision medicine requires new methods to coordinate and deliver genetic data from heterogeneous sources to physicians and patients. The eMERGE III Network enrolled >25,000 participants from biobank and prospective cohorts of predominantly healthy individuals for clinical genetic testing to determine clinically actionable findings. The network developed protocols linking together the 11 participant collection sites and 2 clinical genetic testing laboratories. DNA capture panels targeting 109 genes were used for testing of DNA and sample collection, data generation, interpretation, reporting, delivery, and storage were each harmonized. A compliant and secure network enabled ongoing review and reconciliation of clinical interpretations, while maintaining communication and data sharing between clinicians and investigators. A total of 202 individuals had positive diagnostic findings relevant to the indication for testing and 1,294 had additional/secondary findings of medical significance deemed to be returnable, establishing data return rates for other testing endeavors. This study accomplished integration of structured genomic results into multiple electronic health record (EHR) systems, setting the stage for clinical decision support to enable genomic medicine. Further, the established processes enable different sequencing sites to harmonize technical and interpretive aspects of sequencing tests, a critical achievement toward global standardization of genomic testing. The eMERGE protocols and tools are available for widespread dissemination.
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.