Bioinformatician
As a bioinformatician, I develop and deploy robust, reproducible and scalable bioinformatics pipelines, perform routine end-to-end NGS analysis, and develop novel tools and solutions for genomic data analysis, visualization and sharing. I am passionate about innovation at the intersection of bioinformatics, genomics, and software development. I have experience in the analysis of large-scale WGS/WES data, and RNAseq data in both short-read and long-read sequencing technologies. I also have experience developing full-stack web applications aimed at solving common data-centric problems in genomics.
I currently work as Bioinformatics Engineer at a start-up called 54gene within their Genomics and Data Science team.
Here are some tools and tech I am familiar with and commonly use:
54gene
Nov 2021 - Present
My role involves the development, maintainance and deployment of production-level bioinformatics pipelines and tools. This includes workflows such as a Snakemake-based pipeline for whole-genome sequencing data, R-based tool for benchmarking of computational efficiency within our pipelines, and other tools for customized data analysis. I also perform data analysis, generate quality control reports, and regularly disemminate results and data to our internal stakeholders.
Government of Ontario (Public Health Ontario)
Jun 2020 - Nov 2021
I was the primary technical lead for the Biocomputing Centre on the COVID-19 Genomics project, providing computational support for routine data-analysis, QC/QA, identification and tracking of variants of concern, and development of bioinformatics pipelines handling 40k+ genomes to date. I worked closely with external stakeholders and interdisciplinary groups at the Ministry level to help develop provincial guidelines from SARS-CoV-2 genomic insights.
DNAstack
Master's Internship
Jan 2020 - May 2020
I lead the software development of an extension to the Beacon Network, a real-time serach engine used to crowdsource genomic variant data. I also contributed to the development of an ETL pipeline for a real-time search engine built for SARS-CoV-2 data, now known as Viral.ai. I worked on full-stack development of services including REST APIs built with Java, Javascript, relational databases (PostgreSQL, BigQuery), deployed on GCP and Azure.
Ted Rogers Genome Clinic/The Centre for Applied Genomics
Master's Project
May 2019 - Jan 2020
I helped develop a visual analytics software used for clinical variant interpretation, known as Geneterpret. I worked on both the back-end and front-end development (Python, Javascript/Node.js, and mongoDB) and performed extensive software testing and validation using internal patient datasets and datasets from external database such as ClinVar, dbSNP, COSMIC, and gnomAD.
University of Toronto St. George
2018 - 2020
University of Toronto
2014 - 2018
Co-author, “Manshaei R, DeLong S, Andric V, Joshi E. et al. GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation” BMC Medical Genomics. January 2022. DOI
Co-author, "Gill I et al. The Dataharmonizer: a Tool for Faster Data Harmonization, Validation, Aggregation, and Analysis of Pathogen Genomics Contextual Information. Preprints 2022. DOI
Co-author, “Guthrie JL, Teatero S, Zitterman S, Chen Y, et al. Detection of the Novel SARS-CoV-2 European Lineage B.1.177 in Ontario, Canada” Public Health Ontario. J of Clinical Virology Plus. December 2022. DOI
Co-author,“Mighton C, Carlsson L, Causen M, et al. Development of patient “profiles” to tailor counseling for incidental genomic sequencing results” EJHG. 2019. DOI
Co-author, “Shickh S, Clausen M, Mighton C, et al. Evaluation of a decision aid for incidental genomic results, the Genomics ADvISER: protocol for a mixed methods randomised controlled trial. BMJ Open. 2018;8:4. DOI