{"repo":"FHIR/genomics-operations","free":true,"listed":false,"github":"https://github.com/FHIR/genomics-operations","clone":"git clone https://github.com/FHIR/genomics-operations.git","description":"A public reference implementation of HL7 FHIR Genomics Operations (http://build.fhir.org/ig/HL7/genomics-reporting/operations.html)","language":"Python","stars":34,"topics":["heroku","flask","connexion","fhir","genomics","mongodb","open-api-v3","pytest","python3"],"license":"Apache-2.0","category":"data-pipelines","readme_excerpt":"HL7 FHIR Genomics Operations - Reference Implementation Source code for a public reference implementation of HL7 FHIR Genomics Operations. Please refer to project Wiki page for details of this reference implementation, including how to replicate. For additional information on the operations and the reference implementation, please see our JAMIA manuscript. Issues (bugs, enhancements, etc) can be entered here. (Legacy issues are here). Contact info@elimu.io for other comments. Use Case A common use case driving the operations is the notion of an application (e.g. a SMART-ON-FHIR clinical genomics App, a clinical decision support application, an EHR screen) needing specific genotype or phenotype information, for a patient or a population. Applications have diverse needs, such as matching a cancer patient to available clinical trials based on identified somatic variants; screening for actionable hereditary conditions; identifying a risk for adverse medication reactions based on pharmacogenomic variants; updating a patient's risk as knowledge of their variants evolves; and more. A goal for FHIR Genomics operations is to ultimately support any and all of these clinical scenarios. Scope In scope are clinical genomics operations. In the future, operations supporting variant calling and annotation, and knowledge base lookups may be added. We further categorize clinical genomics operations along two orthogonal axes - subject vs. population, and genotype vs. phenotype. For example, the","default_branch":null,"files":null,"tree":[],"storefront":"/r/FHIR","claimed":false,"request_supported":{"post":"https://gitbuyer.com/r/FHIR/genomics-operations/request-supported","requests":0},"note":"indexed from public GitHub; nothing is for sale on this page. Clone it from GitHub. Paid listings live at /search."}