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Medical Genetics Information Quality Scientist

Location: Redwood City, CA
Job Code: 120168
# of openings: 1


Ingenuity is a group of creative, energetic people helping life science researchers understand the biological mechanisms that cause human disease. Ingenuity’s industry-leading technology platform was built by our team of interdisciplinary, entrepreneurial researchers, scientists and engineers that are passionate about improving human health through the intelligent use of semantic technologies. We have used this technology to develop the industry-leading analytic platform for pathway analysis and systems biology research, and are now expanding to develop new solutions for the life sciences and healthcare markets. We are passionate about our users, our products, our technology, and our vision, and are looking for intelligent, talented and entrepreneurial developers who are eager to join our team.  Ingenuity is a professional work environment, valuing work life balance.



As a member of the Content Quality Engineering team, you will use your scientific knowledge, software skills and creativity to assess, ensure, and improve the quality of our rich and diverse biological content and derivative products.  Our content is the driving force behind our sophisticated existing and emerging solutions, from our flagship product Ingenuity Pathways Analysis to our newly introduced Ingenuity Variant Analysis.  Our solutions use cutting-edge computational techniques to gain insight into biological systems.  In particular, you will be responsible for assuring the scientific quality of our new molecular diagnostics decision support product line including the related development processes, tools, knowledge models, delivery and maintenance in a software development setting.  You will work closely with a talented and dedicated team of scientists, developers, usability engineers, product managers, and IT professionals to enable our customers to gain extraordinary scientific insights through delightful and enlightening investigative experiences using our products. Training will be provided.




Essential Functions: 

  • Assure the scientific and content quality of or variant-based products, particularly our new molecular diagnostics decision support product line.
  • Scientific evaluation of features in variant-based products.  Provide expert scientific guidance for improvements.
  • Requirements refinement, test planning, design, implementation, execution and maintenance, defect analysis and reporting, and risk assessment.
  • Work with product managers, scientists, and developers to understand and refine requirements of new and exciting product features. Ensure the features are scientifically valid and useful and technically robust.
  • Work with developers to continuously integrate new features with sufficient testing coverage.
  • Be a passionate voice of our scientific product customers internally.  Evaluate, prioritize and escalate issues as necessary.


Marginal Functions:

  • Work with other software quality engineers and developers to understand content and algorithm changes in our products, create test beds, and select test cases.
  • Work with developers and build engineers to incrementally improve and streamline build processes.
  • End-to-end user workflow testing.




  • Strong knowledge of medical genetics.
  • Strong programming skills, especially in Perl or Python.
  • Enthusiasm to explore diverse content sources, algorithms, and software.
  • Excellent critical and analytical thinking, problem solving and troubleshooting skills.
  • Excellent verbal and written communication skills.
  • Strong proven ability to self-start, plan, prioritize, and scope work in a fast-paced, dynamic environment.
  • Strong attention to detail, thoroughness, and organization.
  • Enthusiasm to learn and practice new technologies as needed to get the job done.
  • Ability to work with diverse cross-functional group of scientists, software developers, product managers, and IT professionals.


  • In-depth knowledge of software development best practices.
  • In-depth knowledge of a variety of quality controls and software testing techniques.
  • Knowledge of one or more of the following: bioinformatics, computational biology, systems biology, Information Extraction, data mining, ontology, semantic web, Artificial Intelligence, Natural Language Processing, or expert systems.


  • Building and delivering software in Agile, scrum, or XP SDLC.




  • 4+ years proficiency in interpreting scientific literature and associated results.
  • 3+ years scripting with Perl or Python.
  • 1+ year writing Java
  • 2+ years hands-on experience parsing and manipulating large data files.
  • 3+ years proficiency with Unix and Windows and/or Macintosh operating systems and internet browsers including Firefox, IE, Chrome.



  • 4+ years research or clinical experience with human hereditary diseases or human genetics.
  • 2+ years familiarity with clinical significance assessment and reporting of genetic variations.
  • 2+ years bioinformatics experience, especially in genomics.
  • 1+ years software testing experience, and proficiency with database design and querying.
  • 1+ year automating software using, for example, shell scripts, Ant, or Hudson.
  • 2+ years Java programming and object-oriented design analysis.





  • Graduate degree in genetics, bioinformatics, or related field or equivalent experience.


  • MD or PhD in medical genetics or field related directly to human disease or equivalent experience.






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