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

BACKGROUND: 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 FHIR-based clinical genomics applications are emerging. Here, we describe an open source utility...

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Detalhes bibliográficos
Publicado no:BMC Bioinformatics
Main Authors: Dolin, Robert H., Gothi, Shaileshbhai R., Boxwala, Aziz, Heale, Bret S. E., Husami, Ammar, Jones, James, Khangar, Himanshu, Londhe, Shubham, Naeymi-Rad, Frank, Rao, Soujanya, Rapchak, Barbara, Shalaby, James, Suraj, Varun, Xie, Ning, Chamala, Srikar, Alterovitz, Gil
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
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Software
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7923512/
https://ncbi.nlm.nih.gov/pubmed/33653260
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-021-04039-1
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