We believe there is a smarter, more data-driven way to make decisions in health. As we pass 1,000,000 genomic profiles analyzed and look to the future of our platform, we are now searching for a Bioinformatics Expert who will be be part of a dynamic and exciting international team. Our SaaS DATA Platform combines deep expertise in life sciences and medical disciplines with mathematical capabilities in data computing.
Our mission is to bring data analytics solutions to market, to support healthcare professionals by maximizing the power of Data-Driven Medicine. SOPHiA GENETICS (NASDAQ: SOPH) combines collective intelligence in Genomics, Radiomics, clinical research data, the DDM - Data-Driven Medicine, we can ensure that the data used to help patients today will also benefit the patients of tomorrow.
Be part of our mission to disrupt the traditional healthcare model and democratize data driven medicine! SOPHiA GENETICS is looking for a talented Bioinformatics Expert - Tertiary Analysis to join the Tertiary Analysis team (part of the Data Science Department) in our new office in Bidart, France OR in Rolle, Switzerland
This job advertising is for the French office (Bidart).
The primary focus of the Tertiary Analysis team is the annotation and the interpretation of genetic variants (and other clinically relevant features) present in genomic data. As such, the Tertiary Analysis team identifies, handles, and validates the contextual information supporting the genomic experts in their interpretation of results. This includes:
- The design, evaluation and integration of predictive models and algorithms to prioritize variants and their effects;
- The integration of expert knowledge from multiple data resources and repositories.
Main responsibilities
- Conceive and research models and algorithms for variant effect prediction and variant prioritization, on either somatic or germline contexts.
- Apply subject matter knowledge in cancer and/or Mendelian genomics to guide the design of solutions for variant interpretation and collaborate on the implementation with a team of developers.
- Design and carry-out reproducible analytical performance benchmarks of statistical models and algorithms.
- Communicate and discuss designs and developments with management, the team and project managers.
- Lead the preparation of technical materials such as white papers for tertiary analysis workflows.
- Provide topic knowledge support to other teams at multiple stages of product development.
- Regularly engage with scientific literature in the field of cancer and/or medical genomics as well as with clinical guidelines and standards for variant interpretation.
- Collect and curate ground-truth datasets for algorithm performance benchmarking.
Requirements
- PhD in cancer genomics, medical genomics, computational biology, functional genomics, population genetics, or similar field. Strong publication record in the field of expertise is required.
- At least 5 years of experience in computational biology. Ability to understand the inner workings of state-of-the-art algorithms related to variant prioritization and variant effect prediction.
- Working knowledge of cancer genomics and/or medical genomics is a must. Demonstrated experience in a clinical genetics or genetic diagnostic setting is highly desirable.
- Excellent communication skills, including experience in communicating complex scientific principles in simple terms to varied audiences.
- Competence in programming languages common in the bioinformatics field (e.g. Python, R), demonstrated experience in reproducible research (routine use of code versioning, environment configuration tools and scientific workflows).
- SQL and bash scripting experience is an advantage.
- English is required.
Benefits
You will be joining an organisation with the patient at the heart of every decision and action, driven by purpose as we drive exponential growth.
Business recognition and accolades include:
- World's most innovative companies (Top 10)
- World's smartest companies (Top 50)
- 100 Best Places to Work in Boston
- Top 10 European Tech Startup - 2020
- Top 10 European biotechs startup to watch - 2021
- Top 25 East-Coast Biotech to watch - 2021
Plus, you will find:
- Flexible, friendly and international working environment
- An exciting journey to facilitate patients' access to better treatment worldwide
- A stimulating technical environment
- Continuous learning and trainings
- A competitive salary
- Vacation bonus in June
- Onboarding program an