I'm a bioinformatician and project manager in the Aparicio Lab, working where cancer genomics, single-cell sequencing, and computational biology meet. I've supported our scientific work on DLP+ single-cell whole-genome sequencing, including maintaining its links to our LIMS systems, adding features to support our wet-lab teams, and maintaining the QC standards that turn raw sequencing into trustworthy results. Much of it is aimed at detecting rare, low-frequency mutations within tissue, across breast cancer genomics, osteosarcoma, copy-number signatures, and aneuploidy biology.
I also help run the work. As project manager, I support the lab's portfolio of collaborative, externally funded programs both scientifically and administratively, work backed by the Gray Foundation, Wellcome Leap, the Terry Fox Research Institute, the U.S. Department of Defense, and Alex's Lemonade Stand Foundation, coordinating across teams, institutions, and funders to keep complex multi-site projects on track. That side draws on formal project-management and change-management training from UBC Sauder and on the same systems thinking I bring to the pipelines.
Across both roles, the throughline is building and maintaining robust pipelines that carry work from the wet lab to researchers and out to the public.
I completed my Ph.D. at McGill University in the laboratory of Danielle Malo, where my 2016 thesis examined the immunogenetics of typhoid fever and iron homeostasis in the immune response. Before joining the Aparicio Lab I founded a canine-health venture, consulted independently for clients across academia, industry, and healthcare, and was an early team member at the bibliometrics startup Meta, continuing with the Chan Zuckerberg Initiative after its acquisition.
Experience
BC Cancer / University of British ColumbiaAug 2019 – Present · Vancouver
Aparicio Lab — single-cell whole-genome sequencing (DLP+) of cancer. Develop and validate NGS analysis pipelines; build and run the lab's LIMS (Colossus / Tantalus) and the sequencing-instrument-to-analysis data flow, including multi-site data exchange; and provide program management across multiple research collaborations.
Canine HealthApr 2017 – Aug 2019
Founder
Independent Scientific ConsultancyMar 2017 – Aug 2019 · Greater Vancouver
Scientific Consultant — bioinformatics & data science
Clients across academia, industry, and healthcare.
Meta → Chan Zuckerberg InitiativeOct 2014 – Mar 2017
Scientific Consultant / Team Member
Bibliometrics startup Meta, continuing with CZI following its acquisition.
Skills & Technical
Languages: Python, R, Bash, SQL, Git Infrastructure: Linux, HPC (SLURM), Azure Pipelines & workflows: Docker, Snakemake, WDL Data systems: LIMS (Colossus / Tantalus), instrument-to-analysis integration, multi-site data exchange Genomics & quality: variant calling and annotation (GATK), QC and validation, SOPs and quality systems
Education
McGill University2009 – 2016
Ph.D., Human Genetics (Infectious Disease)
Laboratory of Danielle Malo. Thesis: immunogenetics of typhoid fever and iron homeostasis in the immune response.
McGill University2008 – 2009
M.Sc., Human Genetics(fast-tracked to Ph.D.)
University of the Fraser Valley2004 – 2008
B.Sc., Biology — Cellular & Molecular Genetics
UBC Sauder School of Business2022 – 2026
Project Management & Change Management
Certified in Project Management (2022) and Change Management (2024–2026).
Research
Within the Aparicio Lab, I contribute single-cell whole-genome sequencing (DLP+) and computational analysis to collaborative cancer-genomics programs supported by the Gray Foundation, Wellcome Leap, the Terry Fox Research Institute, the U.S. Department of Defense, and Alex's Lemonade Stand Foundation.
Single-cell profiling of breast epithelial cells from BRCA1/2 mutation carriers to map how pre-cancerous changes arise. Underpins our Nature Genetics (2024) and Nature Aging (2026) breast papers. Detecting rare, low-frequency mutations within tissue depends on the same analytical sensitivity that rare-disease and diagnostic genomics require.
"Tissue time machines" — profiling tissue states to predict disease progression, using triple-negative breast cancer as one of the program's disease models.
Investigating whether DNA-targeting drugs (CX-5461 and related) can be made more effective against osteosarcoma by targeting ALT-positive tumours. Aparicio / Steif / Stirling sub-project.
Combining DLP+ single-cell genomics with barcode-based clonal lineage tracing (Hannon lab, Cambridge) to study the clonal architecture of metastatic breast cancer.
Single-cell spatial atlas of the aging human breast.
Gupta P, Lee E, Masqué Soler N, … Beatty S, Roth A, Aparicio S, Ali HR · Nature Aging (2026)
Luminal breast epithelial cells of BRCA1 or BRCA2 mutation carriers and noncarriers harbor common breast cancer copy number alterations.
Williams MJ, Oliphant MUJ, Au V, … Beatty S, … Shah SP, Brugge JS, Aparicio S · Nature Genetics 56(12):2753–2762 (2024) · doi:10.1038/s41588-024-01988-0
Single-cell genomic variation induced by mutational processes in cancer.
Aparicio Lab · Nature (2022)
Accurate determination of CRISPR-mediated gene fitness in transplantable tumours.
Aparicio Lab · 2022
Results of the phase I CCTG IND.231 trial of CX-5461 in patients with advanced solid tumors enriched for DNA-repair deficiencies.
Aparicio Lab · 2022
Performed the blinded germline analysis of treatment effects and wrote a pipeline to validate variant calls against ClinVar, surfacing annotation errors in the reference database.
Community, Education & Outreach
Patient advocacy & science outreach
Let's Talk Science; Pathways to Education; and peer health education.
UBC Science Co-op Supervisor Recognition Award
Recognized for mentorship and supervision of co-op students.
