ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Neptune: an environment for the delivery of genomic medicine.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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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.
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Who cites it
6 citing papers in PubMed.
- Deleterious coding variation associated with autism is shared across ancestries.Nature medicine · 2026Article
- Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations.medRxiv : the preprint server for health sciences · 2025Article
- 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
- Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- The Implementation Science for Genomic Health Translation (INSIGHT) Study in Epilepsy: Protocol for a Learning Health Care System.JMIR research protocols · 2021Article
Corrections and comments
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Authors and funding
20 authors.
Funding
Abstract
purposeGenomic medicine holds great promise for improving health care, but integrating searchable and actionable genetic data into electronic health records (EHRs) remains a challenge. Here we describe Neptune, a system for managing the interaction between a clinical laboratory and an EHR system during the clinical reporting process.
methodsWe developed Neptune and applied it to two clinical sequencing projects that required report customization, variant reanalysis, and EHR integration.
resultsNeptune has been applied for the generation and delivery of over 15,000 clinical genomic reports. This work spans two clinical tests based on targeted gene panels that contain 68 and 153 genes respectively. These projects demanded customizable clinical reports that contained a variety of genetic data types including single-nucleotide variants (SNVs), copy-number variants (CNVs), pharmacogenomics, and polygenic risk scores. Two variant reanalysis activities were also supported, highlighting this important workflow.
conclusionMethods are needed for delivering structured genetic data to EHRs. This need extends beyond developing data formats to providing infrastructure that manages the reporting process itself. Neptune was successfully applied on two high-throughput clinical sequencing projects to build and deliver clinical reports to EHR systems. The software is open source and available at https://gitlab.com/bcm-hgsc/neptune .
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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.