Incorporating personalized gene sequence variants, molecular genetics knowledge, and health knowledge into an EHR prototype based on the Continuity of Care Record standard

► We demonstrated an approach to include a patient's sequence variants into an EHR prototype. ► We extended an EHR standard-CCR to support the representation of some sequence variants. ► We integrated a preexisting molecular genetics knowledge base (OntoKBCF) into the EHR. ► The patient's clinical and molecular genetic data are filters to customize knowledge from OntoKBCF. ► We demonstrated the inclusion of a patient's sequence variants in a standardized EHR is feasible.