Towards enabling the semantic access of phenotypic information in clinical letters

Over the past 3 years there has been a massive growth in genetic testing both in terms of the scope of testing and the numbers of individuals offered genetic testing. Targeted sequencing of small genomic regions has been replaced by panel testing, whole exome sequencing and most recently whole genome sequencing [4]. Furthermore, genetic testing in research, but also clinical settings has extended beyond small numbers of selected individuals with...