Primary Responsibilities:
Panel and Assay Science: Provide genomics algorithm insights to our expanded panel roadmap, including which genes are worth considering and why, working with Product, the Laboratory Directors, and Research, who own that decision jointly. Help define the approach for analytically difficult genes and assay edge cases, and weigh what is scientifically defensible against what is technically possible.
Caller Strategy and Method Development: Define the computational strategy for new targeted and special-purpose callers. Help decide when a new caller is justified and when an existing method should be extended instead. Prototype and benchmark new methods, and work with the engineering team to get methods into production.
Scientific Investigation and Escalation: Serve as a genomics consultant on complex production escalations, separating biological causes from analytical and pipeline ones. Recognize when a result looks suspicious because of where the reads came from and not because the analysis went wrong. Turn one-off investigations into durable rules and design changes that reduce repeat work.
Data Quality and Cross-functional Partnership: Act as bioinformatics liaison with Variant Management, Reporting, and Laboratory Operations on data quality, variant representation, and system integration. Provide the scientific rationale that the accountable Quality and Laboratory functions rely on when they decide a method is ready to deploy.
Ways of Working: Help define what correct looks like for AI-assisted scientific investigation, for example what an agent may and may not conclude from a region-level finding without a human signing off. We do not screen for prior experience with these tools, and many strong candidates come from environments where they were restricted; we provide the tooling and the ramp time.
What success looks like after a year:
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Contributed to the scientific and bioinformatics rationale of product roadmaps.
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Deployment-readiness criteria for new analysis methods exist and are in use, and you have contributed to at least one new or extended caller yourself.
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You take on the bioinformatics aspects inside complex production investigations without waiting to be assigned them.
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Other groups know they can bring genomics questions about our assays to you.