负责人 生物信息学家(cfDNA 算法与流程)
Lead Bioinformatician (cfDNA Algorithms and Pipelines)
Natera 正在寻找一位高级生物信息学家,以推进我们用于女性健康和器官健康的诊断检测的算法基础。这是一个独立贡献者角色。你将为团队提供所需的基因组学专业知识,从常常存在歧义的测序数据中提取可靠信号。
你将建立方法学基础,并实现用于检测难以准确识别的变异(SNV、Indel、CNV、SV)的算法,这些变异通常出现在低比例(胎儿、供体 cfDNA)样本中。理想的候选人应具备算法基因组学的深厚经验、强大的编程能力,并热衷于开发可扩展且具有临床影响的计算工具。
主要职责:
测序面板与检测科学:为我们的扩展测序面板路线图提供基因组学算法见解,包括哪些基因值得考虑以及原因,与产品、实验室负责人和研究部门合作,他们共同负责该决策。帮助定义分析难度较大的基因和检测边缘情况的方法,并权衡科学上合理的内容与技术上可行的内容。
检测器策略与方法开发:制定新靶向和专用检测器的计算策略。帮助决定何时需要新的检测器,以及何时应扩展现有方法。原型化并评估新方法,并与工程团队合作将方法投入生产。
科学调查与问题升级:作为复杂生产问题的基因组学顾问,区分生物学原因与分析和流程原因。识别因读段来源而看起来可疑的结果,而不是因为分析出错。将一次性调查转化为持久的规则和设计变更,以减少重复工作。
数据质量与跨职能合作:作为生物信息学联络人,与变异管理、报告和实验室运营部门合作,确保数据质量、变异表示和系统集成。为负责质量和实验室的职能提供科学依据,以便他们在决定方法是否准备好部署时做出判断。
工作方式:帮助定义人工智能辅助科学调查的正确标准,例如代理在没有人工确认的情况下可以从区域级结果中得出什么结论。我们不筛选这些工具的先验经验,许多优秀的候选人来自没有使用过这些工具的环境。
查看英文原文
Natera is seeking a Lead 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 genomics expertise the team needs to pull reliable signals out of sequencing 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 call accurately in low fraction (fetal, donor cfDNA) samples. The ideal candidate will have deep experience in algorithmic genomics, strong programming skills, and a passion for developing scalable, clinically impactful computational tools.
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:
- Contributed to the scientific and bioinformatics rationale of product roadmaps.
- 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.
- You take on the bioinformatics aspects inside complex production investigations without waiting to be assigned them.
- Other groups know they can bring genomics questions about our assays to you.
Qualifications:
- Degree in Bioinformatics, Computational Biology, Bioinformatics, Human Genetics, or a related field. We do not require a Ph.D. or M.S.: equivalent depth built through work counts fully.
- 4+ years analyzing short-read sequencing data for screening or diagnostic applications, preferably in a regulated, accredited, or production-adjacent setting. We count relevant experience from the point your work became substantially independent, however you got there.
- Experience contributing to the bioinformatics workflows behind a sequencing assay or panel.
- Experience seeing a complex investigation through to resolution across biological, analytical, and systems-level causes.
Knowledge, Skills, and Abilities:
What we are screening for
- Experience developing, validating, or benchmarking bioinformatics methods (e.g. SNVs, CNVs, SVs), particularly for analytically difficult regions.
- Proficient in Python with demonstrated experience prototyping bioinformatics tools or callers.
- Enough human genetics depth to contribute to the panel design: variant spectrum, population frequency, and where compromises on accuracy can (and cannot) be made.
- Familiarity with identifying regions where short reads cannot be placed with confidence: homologous sequence and pseudogenes, low-complexity and repeat structure, and copy-number-heavy regions.
- Experience contributing to study designs or performance criteria for a bioinformatics analysis method.
Strong candidates may also have
- Direct non-invasive prenatal, reproductive, or carrier screening experience.
- Experience with cfDNA, or with another application where the molecules you care about are a small minority of what was sequenced.
- Experience developing algorithms for both short-read and long-read sequencing platforms (e.g., Illumina, ONT, PacBio).
- Cross-functional credibility with genetic counseling, variant management, reporting, and production-adjacent groups.
- Experience in an accredited or high-complexity laboratory, or familiarity with production support or escalation processes.
The pay range is listed and actual compensation packages are based on a wide array of factors unique to each candidate, including but not limited to skill set, years & depth of experience, certifications and specific office location. This may differ in other locations due to cost of labor considerations.
Remote USA
$130,900—$163,600 USD
OUR OPPORTUNITY
Natera™ is a global leader in cell-free DNA (cfDNA) testing, dedicated to oncology, women’s health, and organ health. Our aim is to make personalized genetic testing and diagnostics part of the standard of care to protect health and enable earlier and more targeted interventions that lead to longer, healthier lives.
The Natera team consists of highly dedicated statisticians, geneticists, doctors, laboratory scientists, business professionals, software engineers and many other professionals from world-class institutions, who care deeply for our work and each other. When you join Natera, you’ll work hard and grow quickly. Working alongside the elite of the industry, you’ll be stretched and challenged, and take pride in being part of a company that is changing the landscape of genetic disease management.
WHAT WE OFFER
Competitive Benefits - Employee benefits include comprehensive medical, dental, vision, life and disability plans for eligible employees and their dependents. Additionally, Natera employees and their immediate families receive free testing in addition to fertility care benefits. Other benefits include pregnancy and baby bonding leave, 401k benefits, commuter benefits and much more. We also offer a generous employee referral program!
For more information, visit www.natera.com.
Natera is proud to be an Equal Opportunity Employer. We are committed to ensuring a diverse and inclusive workplace environment, and welcome people of different backgrounds, experiences, abilities and perspectives. Inclusive collaboration benefits our employees, our community and our patients, and is critical to our mission of changing the management of disease worldwide.
All qualified applicants are encouraged to apply, and will be considered without regard to race, color, religion, gender, gender identity or expression, sexual orientation, national origin, genetics, age, veteran status, disability or any other legally protected status. We also consider qualified applicants regardless of criminal histories, consistent with applicable laws.
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