TY - JOUR
T1 - FHIR Genomics
T2 - enabling standardization for precision medicine use cases
AU - Alterovitz, Gil
AU - Heale, Bret
AU - Jones, James
AU - Kreda, David
AU - Lin, Fan
AU - Liu, Lei
AU - Liu, Xin
AU - Mandl, Kenneth D.
AU - Poloway, David W.
AU - Ramoni, Rachel
AU - Wagner, Alex
AU - Warner, Jeremy L.
N1 - Publisher Copyright:
© 2020, The Author(s).
PY - 2020/12/1
Y1 - 2020/12/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85082103729&partnerID=8YFLogxK
U2 - 10.1038/s41525-020-0115-6
DO - 10.1038/s41525-020-0115-6
M3 - Article
C2 - 32194985
AN - SCOPUS:85082103729
SN - 2056-7944
VL - 5
JO - npj Genomic Medicine
JF - npj Genomic Medicine
IS - 1
M1 - 13
ER -