Senior Technical Support Specialist

Blueclip; Fatih; On-site; TRY 450,000 - 700,000; Full time

Benefits offered by this job

Competitive compensation

Structured learning environment

Collaboration with researchers and eng

Job summary

Blueclip is seeking a Senior Technical Support Specialist for a client, a well-established bioinformatics company specializing in genomic data analysis and clinical interpretation. You will be the first point of contact for the clinical users of our SEQ Platform, owning issues from report to resolution and guiding users with practical workarounds.

Collaborating with the development team, you will perform root-cause analysis, document findings, and help raise the standard of product support

Qualifications

• Ph.D. in human genetics or related field is required.
• Hands-on experience interpreting NGS results in clinical genetics.
• Experience supporting technical or clinical users.

Responsibilities

• End-to-End Resolution: own user issues from first contact to full resolution.
• Root Cause Analysis: investigate sources using variant data and file formats.
• Severity Assessment: prioritize by actual clinical risk.
• Clinical Communication: explain platform behavior and provide workarounds.
• Cross-Team Collaboration: translate issues for the development team and verify fixes.
• Issue Prevention: identify recurring problems and improve docs or product.

Skills

Unix command line

Python scripting

Troubleshooting

Clinical communication

Root-cause analysis

NGS data interpretation

Education

Ph.D. in human genetics

Tools

Docker

Nextflow

Snakemake

Job description

As Blueclip, we started our journey to bring the most creative minds and the know-how together to deliver great works.

About Our Search

We are currently looking for a Senior Technical Support Specialist to join our client, a well-established bioinformatics company specializing in genomic data analysis and clinical interpretation.

Founded in 2014, our client has developed a comprehensive platform for Next Generation Sequencing (NGS) data analysis, supporting the full workflow from raw data processing to clinical reporting. Their solutions are actively used across 350+ hospitals and laboratories in 20+ countries, contributing to the diagnosis of hundreds of thousands of patients worldwide.

Role Overview:

As a Senior Technical Support Specialist at Genomize, you will be the first point of contact for the clinical users of our SEQ Platform, taking ownership of the technical cases they raise and resolving them end to end. You will investigate reported issues down to their root cause, work closely with our development team on the ones that require a fix, and make sure every user receives a clear answer they can act on. Working alongside a dedicated team, you will share your expertise and help raise the standard of the support behind our platform.

Key Responsibilities:

• End-to-End Resolution: Take full ownership of user issues from the first point of contact until the solution is fully resolved and confirmed.
• Root Cause Analysis: Investigate the true source of reported issues using user data, including variant records, annotation sources, coverage, reference genome builds, and file formats.
• Severity Assessment: Prioritize your workload based on the actual clinical risk involved, rather than just the volume of incoming requests.
• Clinical Communication: Act as the technical voice of the platform, explaining system behaviors and offering practical workarounds to users while their case remains open.
• Cross-Team Collaboration: Translate user-reported issues into actionable technical insights for our development team, elevate critical clinical findings, and verify that software fixes are effective.
• Issue Prevention: Identify recurring problems across multiple users and eliminate their root causes through better documentation, training, or product updates.

Additional Responsibilities:

• Knowledge Management: Write and maintain clear technical documentation and user guides that explain complex bioinformatics logic to clinical readers before they need to submit a ticket.
• Proactive Testing: Rigorously test the platform as an internal power user to spot UI friction, clunky workflows, and missing logic before our customers do.
• Feature Refinement: Translate real-world case learnings (such as relevant medical literature or complex ACMG/AMP rules) into improvements for features under development.
• Clinical Quality Assurance: Create and run clinical test cards to ensure backend and pipeline updates never disrupt the scientific accuracy of variant interpretation.
• Internal Training: Serve as the primary technical educator for our Support and Growth teams so they can confidently explain new clinical features to customers.
• Market Analysis: Audit our platform against competitors to identify areas where we can improve user experience, evidence gathering, or accuracy.
• Industry Monitoring: Stay ahead of breaking changes by tracking updates from
• ClinGen, ACMG, AMP, and ClinVar.

Qualifications:

• A Ph.D. in human genetics or a directly related field (medical genetics, molecular biology and genetics, genomics, or human-genetics-focused bioinformatics) is required.
• In exceptional cases we will consider a candidate without a Ph.D. who brings at least five years of hands-on experience solving the diagnostic problems of clinical genetics laboratories.
• Hands-on experience interpreting NGS results within a diagnostic, clinical, or research genetics environment.
• A background in supporting technical or clinical users, such as working at a support desk, acting as a lab's internal escalation point, or working as an application specialist.
• Practical, working knowledge of ACMG/AMP variant classification principles.
• Professional-level written and spoken English, as you will handle cases and write documentation for users in more than 35 countries.
• Strong troubleshooting and analytical skills, with the ability to investigate and test competing explanations.
• Experience with genomic data formats (especially VCF), target regions, transcript sets, and reference genome builds.
• Strong understanding of SNVs/indels, with practical knowledge of CNVs, splice variants, and ACMG/AMP guidelines.
• Familiarity with ClinVar, gnomAD, OMIM, HPO, ClinGen, Orphanet, and common in-silico predictors.
• Comfortable with Unix command line and basic Python scripting for data validation and file manipulation, including AI-assisted coding.
• Clear, jargon-free English communication and a calm, user-focused approach.
• Patient, calm, and user-friendly communication.
• Strong organization, with proactive communication and accurate status tracking.

Nice to have

• Prior experience as an end-user or application/support personnel of a clinical NGS
• interpretation platform.
• Knowledge and/or experience in quality standards and regulations like ISO 13485,
• IVDR, HIPAA. Experience in laboratory quality frameworks like ISO 15189 and
• CAP/CLIA is a plus.
• Experience working with ticketing systems and formal escalation processes.
• A basic understanding of containerized workflows (Docker) and pipelines (Nextflow,
• Snakemake) to help diagnose where an issue occurred.
• Experience delivering training sessions, webinars, or user on-boarding.
• Experience in somatic variant interpretation alongside germline analysis.

What We Offer

• Opportunity to work on real-world genomic data used in clinical settings
• Hands-on experience with production-level bioinformatics workflows
• Close collaboration with experienced researchers and engineers
• A structured environment that supports learning and professional growth
• Competitive compensation and long-term career development opportunities

Ready to start your career in bioinformatics and make a real clinical impact?