vcf2fhir for Structural Variants
- Mentors
- Bob Dolin, Shailesh Gothi, Srikar Chamala
- Organization
- Global Alliance for Genomics and Health
vcf2fhir is a utility to convert VCF files into HL7 FHIR format for genomics-EHR integration. The utility currently converts simple variants (SNVs, MNVs, Indels), along with zygosity and phase relationships, for autosomes, sex chromosomes, and mitochondrial DNA. This project aims to enhance the utility by adding capabilities for the conversion of structural variants (e.g. insertions, deletions, copy number variants).