VCF to FHIR Converter

Introduction

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 clinical genomics applications are emerging, based on the HL7 FHIR Genomics standard. Here, we provide an open source utility for converting variants from VCF format into HL7 FHIR Genomics format.Details of the translation logic are on the manual page. Conceptually, the utility takes a VCF as input and outputs a FHIR Genomics report.

Install

pip install vcf2fhir

Quick Examples

>>> import vcf2fhir
>>> oVcf2Fhir = vcf2fhir.Converter('sample.vcf', 'GRCh37')
>>> oVcf2Fhir.convert()

Logging

You can use python standard logging to enable logs. Two logger ('vcf2fhir.general') and ('vcf2fhir.invalidrecord') are avialble to configure.

• vcf2fhir.general: standard library logs.
• vcf2fhir.invalidrecord: logs all the records from vcf file which are in conversion region but are not converted to fhir format.

>>> import logging
# create logger
>>> logger = logging.getLogger('vcf2fhir.invalidrecord')
>>> logger.setLevel(logging.DEBUG)
# create console handler and set level to debug
>>> ch = logging.FileHandler('invalidrecord.log')
>> ch.setLevel(logging.DEBUG)
# create formatter
>>> formatter = logging.Formatter('%(asctime)s - %(name)s - %(levelname)s - %(message)s')
# add formatter to ch
>>> ch.setFormatter(formatter)
# add ch to logger
>>> logger.addHandler(ch)

Scope

Software converts simple variants (SNVs, Indels), along with zygosity and phase relationships, for autosomes, sex chromosomes, and mitochondrial DNA.

• Not supported
  • Structural variants: Software does not support conversion of structural variants.
  • Alt contigs: Software does not support conversion of variants aligned to Alt contigs. We recommend caution in using this software against VCFs generated with an alternate-locus aware variant caller, as variants mapped to Alt contigs will not be converted.
  • Query liftover: Software assumes that regions (conversion region, studied region, noncallable region) and VCF are based on the same genomic build.
  • Chromosome synonyms (e.g. '1' vs. 'chr1'): Software assumes that chromosome representation is consistent between regions (e.g. in BED files) and VCF. For instance, if VCF uses 'chr1', then BED file must also use 'chr1'

License and Limitations

Software is available for use under an Apache 2.0 license, and is intended solely for experimental use, to help further Genomics-EHR integration exploration. Software is expressly not ready to be used with identifiable patient data or in delivering care to patients. Code issues should be tracked here. Comments and questions can also be directed to [email protected] or [email protected].