Incorporation of personal single nucleotide polymorphism (SNP) data into a national level electronic health record for disease risk assessment, part 1: an overview of requirements.

Published in: JMIR medical informatics (2014)

In order to integrate structured genotype and phenotype data into any system, there is a need to determine data components, terminology standards, and identifiers of clinicogenomic information. Also, we need to determine interoperability standards to share information between different information systems of stakeholders, and develop decision support capability to interpret genomic variations based on the knowledge bases via different assessment approaches.

Keyphrases

electronic health record
clinical decision support
risk assessment
adverse drug
health information
healthcare
big data
quality improvement
copy number
machine learning
dna methylation
climate change
social media