If you are interested, please submit your CV in English. Please note that in some countries we offer a full-time freelancing consulting agreement.
A Little Bit about Us
VarSome.com is the world’s leading website for professional human genetics. With more than 5 000 citations in scientific papers, 60 000 registered professional users, we are seeking to bring together all the human expertise in molecular genetics. VarSome Clinical is a comprehensive decision support software platform for genetic testing.
VarSome is created by Saphetor, a Switzerland-based precision medicine company with offices in Lausanne, Boston, and Athens, using bioinformatics to apply human genome data to improve health and lives worldwide.
Saphetor is pioneering the use of big-data sequencing technology, such as exome and whole-genome sequencing, for clinical practice. We are involved in both clinical research and diagnostics, providing our clients with quality analysis and interpretation of next-generation DNA sequencing (NGS) data. All our services are provided over the web, and our VarSome.com website is the world’s prime reference for genetic variant interpretation.
Role Responsibilities
- Build and maintain a pipeline for calling variants from genomic data, both ad hoc and using modern pipelining tools like Prefect.
- Ensure pipelines are reproducible, scalable, and adhere to best practices in data analysis.
- Design and code robust tools for the analysis of genomic data.
- Optimize existing code for efficiency and scalability.
What you will bring:
- Undergraduate degree in Bioinformatics/Computational Biology, Computer Science, or a related field. Higher degrees are a plus.
- Proven experience in bioinformatics algorithm development and pipeline construction.
- Proficiency in Python. Other scripting languages, e.g. Perl, are a plus.
- Strong understanding of genomics, genetics and biology.
- Familiarity with databases, data management, and integration techniques.
- Experience with version control systems (e.g., Git) and, ideally, containerization (e.g., Docker).
- Excellent problem-solving skills and the ability to work in a collaborative, interdisciplinary environment.
- At least 4 years of working experience working in a Linux environment.
- Strong command of the English language, both written and spoken.
- The ability to work effectively as part of a team.
Your career journey with us includes:
- A position in a fascinating healthcare growth domain, at the cutting edge of technology.
- A competitive compensation package.
- Remote work with occasional meetings. Everyone in the company speaks fluent English and the company is very experienced in coordinating a regionally distributed team, using an agile workflow.
- Endless learning opportunities while transferring new technologies from academics to clinical practice all over the world.
Saphetor is proud to be an Equal Opportunities Employer. We provide equal employment opportunities to all qualified applicants and our employees, regardless of race, color, religion, national origin, age, sex, medical condition or disability, sexual orientation, gender expression, or marital status.
Skills Required
- Undergraduate degree in Bioinformatics, Computational Biology, Computer Science, or related field
- Advanced degree (Masters/PhD) in relevant field
- Proven experience in bioinformatics algorithm development and pipeline construction
- Proficiency in Python
- Experience with other scripting languages (e.g., Perl)
- Strong understanding of genomics, genetics, and biology
- Familiarity with databases, data management, and integration techniques
- Experience with version control systems (e.g., Git)
- Experience with containerization (e.g., Docker)
- At least 4 years working experience in a Linux environment
- Excellent problem-solving skills and ability to work collaboratively
- Strong command of English (written and spoken)
What We Do
Saphetor is a global precision-medicine company dedicated to large-scale identification and interpretation of human genetic variants by leveraging proprietary algorithms and expert domain knowledge. Saphetor is the creator of VarSome, a suite of intuitive and data-driven bioinformatics solutions for clinicians and researchers. VarSome is powered by a Molecular DB with over 150 integrated and harmonized genomic data sources, linked by AI to over 32 million publications. Thanks to VarSome’s global community of over 600 000, the database is further enriched by additional unique user-generated annotation. Saphetor has developed proprietary algorithms to automate variant classification based on industry-standard ACMG and AMP guidelines for interpretation of germline and somatic variants, as well as CNVs. The VarSome suite offers solutions for individuals needing a powerful Search tool to support research, professional labs requiring a CE-IVD and HIPAA-compliant platform to analyze DNA sequencing samples, and bioinformaticians wanting to use our API to access our database and classifiers and integrate into existing code.
