Creation of a structured molecular genomics report for Germany as a local adaption of HL7's Genomic Reporting Implementation Guide.

Caroline Stellmach Julian Sass Bernd AuberMartin BoekerThomas WienkerAndrew J HeidelManuela BenarySimon SchumacherStephan OssowskiFrederick KlauschenYvonne MöllerRita SchmutzlerArsenij UstjanzewPatrick WernerAurelie Tomczak Thimo HölterSylvia Thun

Published in: Journal of the American Medical Informatics Association : JAMIA (2023)

Our report serves as a template for other research initiatives attempting to create a standard format for unstructured genomic report data. Use of standard formats facilitates integration of genomic data into electronic health records for clinical decision support.

Keyphrases

electronic health record
clinical decision support
adverse drug
copy number
quality improvement
healthcare
single cell
gene expression
dna methylation
big data
machine learning
mass spectrometry
genome wide