Bioinformatics Specialist Full-time NEW

Bioinformatics Specialist

At Roche you can show up as yourself, embraced for the unique qualities you bring. Our culture encourages personal expression, open dialogue, and genuine connections, where you are valued, accepted and respected for who you are, allowing you to thrive both personally and professionally. This is how we aim to prevent, stop and cure diseases and ensure everyone has access to healthcare today and for generations to come. Join Roche, where every voice matters.

The Position

We are looking for a Bioinformatics Specialist to join the Bioinformatics team at Roche Diagnostics Turkiye and play an active role in the development, implementation, and technical support of bioinformatics solutions used in molecular diagnostics. In this role, you will support the effective use of Roche sequencing solutions—including Axelios, KAPA, Avenio, and NAVIFY® Sequencing Software—across university hospitals, public hospitals, and private laboratories. You will contribute to the development, optimization, and validation of bioinformatics workflows that transform complex genomic data into meaningful clinical insights. Working closely with R&D, Information Technology (IT), Global Support, and Field teams, you will help deliver reliable, high-quality bioinformatics solutions to our customers.

Responsibilities:

• Develop, optimize, and validate bioinformatics workflows for Roche sequencing solutions.
• Evaluate and continuously improve germline and somatic variant analysis pipelines.
• Support the accuracy, reliability, and reproducibility of bioinformatics analyses for clinical applications.
• Support bioinformatics analysis activities and technical assistance for Roche sequencing solutions in customer laboratories.
• Collaborate with global teams to investigate and resolve technical issues.
• Deliver technical consultation and training related to bioinformatics analysis workflows.
• Evaluate NGS quality metrics to ensure reliable analytical performance.
• Analyze large-scale genomic datasets supporting molecular diagnostic applications.
• Prepare technical documentation and evaluate analysis results from scientific and technical perspectives.
• Evaluate emerging bioinformatics methodologies, algorithms, and open-source tools for potential integration into Roche solutions.
• Participate in the validation, documentation, and continuous improvement of bioinformatics workflows.
• Collaborate with global teams to support future product development initiatives.

Qualifications:

• Bachelor's degree in Bioinformatics, Molecular Biology and Genetics, Biology, Biomedical Engineering, Computer Science/Engineering, or a related discipline.
• Minimum 3 years of experience in NGS data analysis.
• Experience with germline and/or somatic variant analysis workflows.
• Proficiency in Python and preferably knowledge of R.
• Experience working in Linux environments and Bash scripting.
• Experience with Docker or similar container technologies.
• Experience running bioinformatics workflows in HPC (High Performance Computing) environments.
• Experience using Git or similar version control systems.
• Experience developing or maintaining NGS bioinformatics pipelines.
• Experience with one or more of the following open-source bioinformatics tools is preferred: BWA, GATK, DeepVariant, Fastp, CNVkit, STAR / STAR-Fusion, MSIsensor2, fgbio.
• Familiarity with workflow management systems such as Nextflow, Snakemake, or similar platforms is considered an asset.
• Ability to interpret NGS quality metrics, including coverage, on-target read rate, insert size, and mapping quality.
• Ability to evaluate variant analysis results and interpret bioinformatics reports.
• Strong analytical thinking and problem-solving skills.
• Excellent communication skills with the ability to explain technical concepts to clinicians and laboratory professionals.
• Ability to collaborate effectively within cross-functional teams.
• Minimum B2 level English proficiency to follow scientific literature, product updates, and technical training.
• Valid driver's license and willingness to travel domestically for customer support.

Who We Are

A healthier future drives us to innovate. Together, more than 100'000 employees across the globe are dedicated to advance science, ensuring everyone has access to healthcare today and for generations to come. Our efforts result in more than 26 million people treated with our medicines and over 30 billion tests conducted using our Diagnostics products. We empower each other to explore new possibilities, foster creativity, and keep our ambitions high, so we can deliver life-changing healthcare solutions that make a global impact.

Let's build a healthier future, together.

Roche is an Equal Opportunity Employer.