Table 1 Relationship between VCF and FHIR phase relationships
From: vcf2fhir: a utility to convert VCF files into HL7 FHIR format for genomics-EHR integration
VCF rows | FHIR phase relationship |
|---|---|
6 18142205. C T... GT:PS 1|0:18142205 6 18142422. A C... GT:PS 0|1:18142205 | Heterozygous variants are TRANS |
6 18142289. A G... GT:PS 1|0:18142289 6 18142308. A G... GT:PS 1|0:18142289 | Heterozygous variants are CIS |