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

202122 citationsJournal Articlegold Open Access

Authors

Robert H. Dolin · Electronics for Imaging (United States)

Shaileshbhai Revabhai Gothi · University of Florida

Aziz A. Boxwala · Electronics for Imaging (United States)

Bret S.E. Heale · Intermountain Healthcare

Ammar Husami · University of Cincinnati

James Jones · Boston Children's Hospital

Himanshu Khangar

Abstract

Experience to date shows that the vcf2fhir utility can be effectively woven into clinically useful genomic-EHR integration pipelines. Additional testing will be a critical step towards the clinical validation of this utility, enabling it to be integrated in a variety of real world data flow scenarios. For now, we propose the use of this utility primarily to accelerate FHIR Genomics understanding and to facilitate experimentation with further integration of genomics data into the EHR.

Topics & Keywords

Genomics and Rare Diseases Cancer Genomics and Diagnostics Genomic variations and chromosomal abnormalities

Publication Details

Published in: BMC Bioinformatics

Volume 22, Issue 1, pp. 104-104

DOI: 10.1186/s12859-021-04039-1

Field-Weighted Citation Impact: 2.60

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

Authors

Abstract

Topics & Keywords

Publication Details