FHIR Genomics: enabling standardization for precision medicine use cases

The development of Fast Healthcare Interoperability Resources (FHIR) Genomics, a feasible and efficient method for exchanging complex clinical genomic data and interpretations, is described. FHIR Genomics is a subset of the emerging Health Level 7 FHIR standard and targets data from increasingly ava...

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Autores principales: Alterovitz, Gil, Heale, Bret, Jones, James, Kreda, David, Lin, Fan, Liu, Lei, Liu, Xin, Mandl, Kenneth D., Poloway, David W., Ramoni, Rachel, Wagner, Alex, Warner, Jeremy L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7080712/
https://www.ncbi.nlm.nih.gov/pubmed/32194985
http://dx.doi.org/10.1038/s41525-020-0115-6
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author Alterovitz, Gil
Heale, Bret
Jones, James
Kreda, David
Lin, Fan
Liu, Lei
Liu, Xin
Mandl, Kenneth D.
Poloway, David W.
Ramoni, Rachel
Wagner, Alex
Warner, Jeremy L.
author_facet Alterovitz, Gil
Heale, Bret
Jones, James
Kreda, David
Lin, Fan
Liu, Lei
Liu, Xin
Mandl, Kenneth D.
Poloway, David W.
Ramoni, Rachel
Wagner, Alex
Warner, Jeremy L.
author_sort Alterovitz, Gil
collection PubMed
description The development of Fast Healthcare Interoperability Resources (FHIR) Genomics, a feasible and efficient method for exchanging complex clinical genomic data and interpretations, is described. FHIR Genomics is a subset of the emerging Health Level 7 FHIR standard and targets data from increasingly available technologies such as next-generation sequencing. Much care and integration of feedback have been taken to ease implementation, facilitate wide-scale interoperability, and enable modern app development toward a complete precision medicine standard. A new use case, the integration of the Variant Interpretation for Cancer Consortium (VICC) “meta-knowledgebase” into a third-party application, is described.
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spelling pubmed-70807122020-03-19 FHIR Genomics: enabling standardization for precision medicine use cases Alterovitz, Gil Heale, Bret Jones, James Kreda, David Lin, Fan Liu, Lei Liu, Xin Mandl, Kenneth D. Poloway, David W. Ramoni, Rachel Wagner, Alex Warner, Jeremy L. NPJ Genom Med Brief Communication The development of Fast Healthcare Interoperability Resources (FHIR) Genomics, a feasible and efficient method for exchanging complex clinical genomic data and interpretations, is described. FHIR Genomics is a subset of the emerging Health Level 7 FHIR standard and targets data from increasingly available technologies such as next-generation sequencing. Much care and integration of feedback have been taken to ease implementation, facilitate wide-scale interoperability, and enable modern app development toward a complete precision medicine standard. A new use case, the integration of the Variant Interpretation for Cancer Consortium (VICC) “meta-knowledgebase” into a third-party application, is described. Nature Publishing Group UK 2020-03-18 /pmc/articles/PMC7080712/ /pubmed/32194985 http://dx.doi.org/10.1038/s41525-020-0115-6 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Brief Communication
Alterovitz, Gil
Heale, Bret
Jones, James
Kreda, David
Lin, Fan
Liu, Lei
Liu, Xin
Mandl, Kenneth D.
Poloway, David W.
Ramoni, Rachel
Wagner, Alex
Warner, Jeremy L.
FHIR Genomics: enabling standardization for precision medicine use cases
title FHIR Genomics: enabling standardization for precision medicine use cases
title_full FHIR Genomics: enabling standardization for precision medicine use cases
title_fullStr FHIR Genomics: enabling standardization for precision medicine use cases
title_full_unstemmed FHIR Genomics: enabling standardization for precision medicine use cases
title_short FHIR Genomics: enabling standardization for precision medicine use cases
title_sort fhir genomics: enabling standardization for precision medicine use cases
topic Brief Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7080712/
https://www.ncbi.nlm.nih.gov/pubmed/32194985
http://dx.doi.org/10.1038/s41525-020-0115-6
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