P696: AI-supported identification of disease-gene relationship publications

Since the initial implementation of genome-wide diagnostic sequencing - including exome sequencing (ES) and genome sequencing (GS) - the pace of novel disease-gene relationship (GDR) discovery has been rapid and consistent. Every month, peer-reviewed scientific journal articles are published containing novel GDRs, but there is no systematic mechanism centralizing these findings. GDR databases currently available - including OMIM, ClinGen, theGenCC, PanelApp (UK and Australia), and DECiPHER - rely heavily on human curation of literature.