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Paper Details

vcf2fhir: a utility to convert VCF files into HL7 FHIR format for genomics-EHR integration.
BMC Bioinformatics
7
2021
FHIR, FHIR-formatted variant, MNVs, VCF, autosomes, cancerous gene variants, conversion region, genomic coordinates, genomic regions, mitochondrial DNA, non-callable region, patient, sex chromosomes, vcf2fhir
Author NameAffiliation
Robert H Dolin
Aziz A Boxwala
Bret S E Heale
Ammar HusamiCincinnati Children's Hospital Medical Center and Department of Pediatrics, University of Cincinnati College of Medicine
James Shalaby
Srikar ChamalaUniversity of Florida
Gil AlterovitzBrigham and Women's Hospital
Gil AlterovitzHarvard Medical School
Gil AlterovitzBrigham and Women's Hospital
Gil AlterovitzHarvard Medical School
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