My research seeks to understand how genomic variation contributes to rare, human conditions, particularly those resulting in intellectual disability. I also am interested in describing and expanding the phenotype (i.e., observable traits) of currently annotated conditions. Many of my current projects focus on how genomic variation is detected and interpreted for diagnostics, as well as the health services by which we deliver genetic testing and variant interpretation.
Link to BCCHRI profile: https://www.bcchr.ca/aelbert