Principal Bioinformatics Scientist II - NGS Variant Calling Algorithm

United States of America, California, Pleasanton
United States of America, California, Santa Clara

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Principal Bioinformatics Scientist - NGS Diagnostic Products

Roche is dedicated to advancing personalized healthcare by creating diagnostics and treatments tailored to individual genetic and disease profiles. As part of this mission, Roche Sequencing Solutions is unifying next-generation sequencing with the goal of making it routine: sample in – result out.

Make a Big Difference

Cancer is becoming more and more common disease every year, with 18.1 million new cases observed worldwide in 2018. At the same time, standard of care therapies are often ineffective, leading to daunting 9.5 million cancer-related deaths a year in 2018. New NGS-based diagnostic products developed by Roche allow to find patients that do not respond to standard of care treatment or are qualified to be treated with alternative drugs due to the unique genetic profile of the tumor.  

We are seeking a talented Bioinformatics scientist to collaborate with experimentalists on computational analyses and to build the underlying analysis algorithms and machine learning tools for sequencing data that will fuel the adoption of personalized medicine. The ideal candidate has deep knowledge of algorithm development for next generation sequencing, machine learning, and experience partnering with laboratory development teams to create regulated clinical assays. 


  • Provide bioinformatics expertise to develop sequencing-based diagnostics products

  • Identify analysis methodologies available in public domain, develop new algorithms and methods to analyze NGS data as needed

  • Prototype and evaluate new algorithms for analysis of NGS data

  • Deploy prototype methods into R&D pipeline used for early assay development

  • Conduct simulation studies to understand limitations of analysis techniques and assay

  • Design experiments to empirically demonstrate algorithm and assay performance

  • Conduct data analysis, including statistical analysis, and communicate results to stakeholders

  • Write specifications for software engineers to implement new methods in production grade software

  • Provide functional testing data to aid production software development

  • Use knowledge of industry standards and best practices to contribute to robust bioinformatics development processes (modular, abstract, general and consistent coding, version control, documentation and so on)

Required Skills & Experience:

  • Master's degree in Bioinformatics, Computational Biology, Molecular Biology, Biostatistics, or a related discipline; PhD in Bioinformatics, Biostatistics, Computational Biology preferred

  • 3 years’ relevant experience in Bioinformatics in a biotech or pharmaceutical environment

  • Programming in Python (preferred), experience building Python packages

  • Knowledge of statistics and track record designing new algorithms or statistical methods

  • Experience in biological data analysis and data visualizations

  • Working knowledge of molecular genetics and biology

  • Experience with next generation sequencing data and targeted sequencing

  • Track record of publishing


Roche is an equal opportunity employer and strictly prohibits unlawful discrimination based upon an individual’s race, color, religion, gender, sexual orientation, gender identity/expression, national origin/ancestry, age, mental/physical disability, medical condition, marital status, veteran status, or any other characteristic protected by law.

If you have a disability and need an accommodation in connection with the on-line application process, please email us at