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

Abstract 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...

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Bibliographic Details
Main Authors: Robert H. Dolin, Shaileshbhai R. Gothi, Aziz Boxwala, Bret S. E. Heale, Ammar Husami, James Jones, Himanshu Khangar, Shubham Londhe, Frank Naeymi-Rad, Soujanya Rao, Barbara Rapchak, James Shalaby, Varun Suraj, Ning Xie, Srikar Chamala, Gil Alterovitz
Format: Article
Language:English
Published: BMC 2021-03-01
Series:BMC Bioinformatics
Subjects:
FHIR
Clinical genomics
SMART-on-FHIR
EHR integration
Next-generation sequencing
Online Access:https://doi.org/10.1186/s12859-021-04039-1

Internet

https://doi.org/10.1186/s12859-021-04039-1

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