Principal Bioinformatics Scientist I

Roche•Mississauga, ON

3d•CA$105,560 - CA$138,548

About The Position

At Roche, we are driven by a mission to create a healthier future by advancing science and ensuring access to healthcare for all, now and for generations to come. We foster a culture where individuals can express themselves, engage in open dialogue, and build genuine connections, ensuring everyone feels valued, accepted, and respected. This environment allows our employees to thrive both personally and professionally as we work together to prevent, stop, and cure diseases. As a Principal Bioinformatics Scientist I within Roche Sequencing Solutions (RSS), you will be an integral part of a collaborative, cutting-edge team that is defining a new class of Next-Generation Sequencing (NGS) using our proprietary Sequencing by Expansion (SBX) technology. Your role will be at the nexus of computational biology and wet-lab innovation, empowering global researchers and transforming sample preparation and systems portfolios. This position offers a unique opportunity to shape state-of-the-art sequencing workflows and drive direct advancements in molecular diagnostic capabilities.

Requirements

Ph.D. in Bioinformatics, Computational Biology, or a related quantitative field.
5+ years of experience in the biotechnology industry.
3+ years of experience in investigating raw sequence data to solve complex library prep and chemistry challenges (e.g., unexpected adapter behavior, custom UMI/barcode designs, chimeric reads, coverage gaps).
Deep, mechanistic intuition for NGS library prep chemistry, target enrichment, and how physical reagent performance directly impacts raw bioinformatic signals and downstream variant detection accuracy.
In-depth knowledge of NGS, molecular biology, and human genomics.
Proficiency in Python and workflow managers (Nextflow or Snakemake) in Linux environments.
Strong focus on producing reproducible, well-documented code.
Exceptional problem-solving mindset with precision in both routine QC and complex troubleshooting.
Ability to translate technical findings for multidisciplinary audiences.

Nice To Haves

Experience in diverse applications (preferably single-cell, spatial transcriptomics, or proteomics).

Responsibilities

Perform deep, read-level diagnostics, tracing data from raw basecall signals and FASTQs through alignment and final variant calling to evaluate how upstream chemistry variations impact downstream analytical accuracy.
Evaluate the core assumptions and failure modes of open-source and internal tools on novel SBX data, prototyping and implementing tailored bioinformatic solutions.
Uncover the physical and enzymatic mechanisms driving data anomalies, isolating root-cause molecular artifacts across the NGS workflow to directly guide wet-lab reagent formulation and drive independent pipeline/protocol advancements.
Partner closely with wet-lab scientists, software engineers, and computational teams across all stages, from experimental design and data collection to algorithm design, result interpretation, and clear team-wide communication.
Serve as the bioinformatics functional representative on cross-functional project teams, providing data-supported guidance to develop reagent products and offer expert-level technical support across the organization.