vcf2fhir: a utility to convert VCF files into HL7 FHIR format for genomics-EHR integration

vcf2fhir: a utility to convert VCF files into HL7 FHIR format for genomics-EHR integration

Background: VCF formatted files are the lingua franca of next-generation sequencing, whereas HL7 FHIR is emerging as a standard language for electronic health record interoperability. A growing number of FHIR-based clinical genomics applications are emerging. Here, we describe an open source utility...

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Bibliographic Details
Main Authors: Alterovitz, G. (Author), Boxwala, A. (Author), Chamala, S. (Author), Dolin, R.H (Author), Gothi, S.R (Author), Heale, B.S.E (Author), Husami, A. (Author), Jones, J. (Author), Khangar, H. (Author), Londhe, S. (Author), Naeymi-Rad, F. (Author), Rao, S. (Author), Rapchak, B. (Author), Shalaby, J. (Author), Suraj, V. (Author), Xie, N. (Author)
Format: Article
Language:English
Published: BioMed Central Ltd 2021
Subjects:
Clinical decision support
clinical decision support system
Clinical genomics
Clinical Genomics
Clinical validations
Data integration
Decision support systems
Decision Support Systems, Clinical
Diagnostic Report
EHR integration
electronic health record
Electronic health record
Electronic Health Records
FHIR
Genes
genomics
Genomics
human
Humans
Integration
Integration platform
knowledge base
Knowledge Bases
Next-generation sequencing
oncogene
Oncogenes
Phase relationships
SMART-on-FHIR
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