Exome sequencing and the management of neurometabolic disorders” , download article here

The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource, download article here.


Who I Am
I am a geneticist who combines knowledge and training in biochemistry, medical genetics, cell biology, bioinformatics, arts and teaching to accelerate discovery of new pathogenic variants of known and unknown genes that lead to disease, using whole exome sequencing (WES) and whole genome sequencing (WGS) methods.

What I do for TIDE
I am leading Wasserman’s group in applied genome analysis efforts to develop efficient methods with which to utilize next generation sequencing (NGS) advances and facilitate their translation into clinical practice. As a member of TIDE’s computational research team, we have successfully established a computational pipeline for high throughput processing of sequencing data, variant calls, variant prioritization and optimal delivery of visual and understandable candidate variant lists for clinicians. Currently, using this pipeline in our trio-based analysis (father-mother-child), we are able to process raw fastq sequencing files and deliver an annotated list of variants to clinicians in 1-2 days (8-16 hours).

Special accomplishments for TIDE
At TIDE, we work as a family to combine our strengths for timely diagnosis of rare genetic diseases. We work around the clock with hopes of discovering new/optimal treatments thereby improving lives of patients and their families at BCCH and beyond.
To this family, I contribute my knowledge and skills for the efficient development and use of computational methods with which to identify pathogenic variants in timely manner. My ability to understand clinical, experimental and computational methods proved to be important in bridging the clinical and computational work. Specifically, I have devised optimal delivery of easy-to-understand bioinformatics candidate variant lists to clinicians, which had accelerated our team’s understanding and discovery tremendously. As well, I have uncovered many new pathogenic variants, which are currently at various stages of experimental validations.