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SOPHiA GENETICS Bioinformatician (Pipeline Development) in Boston, Massachusetts

In our journey to impact on patients' lives, we currently have an open position in the bioinformatics and data science department of SOPHiA GENETICS in Boston, USA, to work on "pipeline development", i.e. on designing workflows to accurately and efficiently process large NGS datasets produced in the clinical context in order to diagnose genomic alterations.

As a Bioinformatician for the pipeline development team you will create, optimize, and maintain analysis pipelines for large gene panels (e.g., whole exome). You will do exploratory analyses and leverage data science to assess and improve the analytical performance of our pipelines.

You will focus in particular on the integration of specialized, cutting-edge analyses such as somatic variant analysis, tumor/normal comparisons, CNV detection, RNA fusion detection, TMB analysis, and MSI detection.


  • PhD or PostDoc experience in bioinformatics and NGS data analysis

  • capacity to combine autonomy, creativity and good communication skills in order to solve problems with input from different parties

  • capacity to work in a fast-paced multidisciplinary and multicultural environment

  • capacity to adapt quickly to new challenges

  • experience in variant calling and human genomics/genetics is desirable but not mandatory

  • fluency in R and ideally in another language such as Python, C++, or Perl

  • sound understanding of statistical concepts routinely used in bioinformatics

  • proven track record of working with high performance computing clusters, bioinformatic analysis pipelines, version control systems, and parallel computing

  • solid knowledge of best practices for software development and testing

  • ability to approach complex problems in a systematic fashion and from a software engineering and technical implementation point of view


  • Young and closely interacting R&D team in a casual working environment

  • Career opportunities in a fast-growing company with worldwide reputation

  • International and multicultural environment

  • A stimulating technical environment (cloud computing, Big Data, CI, CD, ...);

  • Permanent exchanges with teams of experts within the company (computer science, genomics, medicine, etc.);

  • Flexible hours, home office opportunities, etc. ;

Starting date: ASAP (or to be decided)

Contract type: Permanent full-time

Application process

If you think you fit this position, please send a CV and a cover letter. Please note that incomplete applications will not be considered.

After an initial screening process, candidates will be invited for remote interviews. Selected candidates will then be invited for personal interviews.