Sidequests

MAGERS Lab

Bioinformatics for refractory schizophrenia research at BC Children's Hospital.

MAGERS (Metabolic and Genetic Explorations in Refractory Schizophrenia) is a study led by Dr. Bob Stowe at BC Children's Hospital Research Institute. It recruits inpatients with severely treatment-resistant schizophrenia or schizoaffective disorder from the BC Psychosis Unit at UBC Hospital. The idea is that this "extreme phenotype" group is enriched for rare but powerful genetic variants — finding them can point toward more targeted treatments. The lab combines deep clinical phenotyping with long-read whole genome sequencing (PacBio HiFi), RNA-Seq, chromosomal microarrays, and pharmacogenomic analysis, then runs the data through a bioinformatics pipeline (DeepVariant for variant calling, Exomiser for prioritization). I sit on the bioinformatics side: I move large genome sequencing files between storage and compute servers, run Exomiser on the sequenced genomes to functionally annotate and prioritize pathogenic variants, cross-check flagged variants for Indigenous participants against the Indigenous Background Variant Library (IBVL) so common background variants aren't mistakenly called pathogenic, and analyze the prioritized results to note trends and abnormalities across cases.