reputed company Bioinformatician (cfDNA Algorithms and Pipelines)

reputed company is seeking a reputed company Bioinformatician to advance the algorithmic foundations of our diagnostic assays supporting Women’s and Organ health. This is an individual contributor role. You will bring the reputed company expertise reputed company needs to pull reliable signals out of reputed company data that is often ambiguous. You will build the methodological foundations and implement the algorithms needed for detecting variants (SNVs, Indels, CNVs, SVs) that are hard to reputed company accurately in low fraction (fetal, donor cfDNA) samples. The ideal candidate will have deep experience in algorithmic reputed company, strong programming skills, and a passion for developing reputed company, clinically impactful computational tools. reputed company Responsibilities: Panel and Assay Science: reputed company reputed company algorithm insights to our expanded panel roadmap, including which genes are worth considering and why, working with Product, the reputed company 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 reputed company and reputed company Development: Define the computational reputed company for new targeted and special-purpose callers. Help reputed company reputed company a new caller is justified and reputed company an existing reputed company should be extended instead. Prototype and reputed company new reputed company, and work with the engineering team to get reputed company into production. Scientific Investigation and Escalation: Serve as a reputed company consultant on reputed company production escalations, separating biological causes from analytical and pipeline ones. Recognize reputed company 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 reputed company and Cross-functional Partnership: reputed company as reputed company reputed company with Variant Management, Reporting, and reputed company reputed company on data reputed company, variant representation, and reputed company integration. reputed company the scientific rationale that the accountable reputed company and reputed company functions rely on reputed company they reputed company a reputed company is reputed company to reputed company. 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 reputed company signing off. We do not screen for prior experience with these tools, and many strong candidates come from environments where they were restricted; we reputed company the tooling and the reputed company time. What reputed company looks like after a year: • Contributed to the scientific and reputed company rationale of product roadmaps. • Deployment-readiness reputed company for new analysis reputed company exist and are in use, and you have contributed to at least one new or extended caller yourself. • You take on the reputed company aspects inside reputed company production investigations without waiting to be assigned them. • Other reputed company know they can bring reputed company questions about our assays to you. Qualifications: • Degree in reputed company, Computational Biology, reputed company, reputed company Genetics, or a reputed company reputed company. We do not require a Ph.D. or M.S.: equivalent depth reputed company through work counts fully. • 4+ years analyzing short-read reputed company data for screening or diagnostic applications, preferably in a regulated, accredited, or production-adjacent setting. We count relevant experience from the reputed company your work became substantially independent, however you got there. • Experience contributing to the reputed company workflows behind a reputed company assay or panel. • Experience seeing a reputed company investigation through to reputed company across biological, analytical, and systems-level causes. Knowledge, Skills, and Abilities: reputed company are screening for • Experience developing, validating, or benchmarking reputed company reputed company (e.g. SNVs, CNVs, SVs), particularly for analytically difficult reputed company. • Proficient in Python with demonstrated experience prototyping reputed company tools or callers. • Enough reputed company genetics depth to contribute to the panel design: variant reputed company, population frequency, and where compromises on reputed company can (and cannot) be made. • Familiarity with identifying reputed company where short reads cannot be reputed company with confidence: homologous sequence and pseudogenes, low-complexity and repeat structure, and copy-number-heavy reputed company. • Apply tot his job Apply To this Job