Senior Clinical Genomics / Genome Analysis Specialist

ESHG c/o WMA GmbH; Çankaya; Sur place; TRY 420 000 - 660 000; Temps partiel

Résumé du poste

Mikrogen Genetic Diagnositcs Center in Ankara, Türkiye seeks a Senior Clinical Genomics / Genome Analysis Specialist to lead interpretation and reporting of genetic test results. The role requires advanced expertise in medical genetics, genomics, and bioinformatics within a clinical diagnostics setting.

The successful candidate will contribute to routine diagnostic workflows, interpret complex variants, and stay current with genomics databases and guidelines.

Qualifications

• Advanced clinical experience in Medical Genetics, Molecular Biology and Genetics, Genomics, Bioinformatics or a closely related field.
• Extensive professional experience in clinical exome and/or genome analysis.
• Demonstrated expertise in human genetic disease and clinical variant interpretation.
• Strong knowledge of Mendelian inheritance, penetrance, variable expressivity and genotype–phenotype relationships.
• Proven experience with ACMG/AMP classification and clinical genomic databases.
• Ability to independently evaluate complex and unsolved genomic cases.
• Strong scientific publication and literature evaluation skills.
• Excellent command of written and spoken English.

Responsabilités

• Contribute to the routine clinical interpretation and reporting of genetic test results as part of the laboratory’s daily diagnostic workflow.
• Collaborate with researchers and clinicians to ensure accurate genomic analysis and reporting.

Connaissances

Medical Genetics

Molecular Biology

Genomics

Bioinformatics

Exome/Genome Analysis

Outils

ACMG/AMP guidelines

Clinical genomic databases

Description du poste

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Senior Clinical Genomics / Genome Analysis Specialist

Employer Mikrogen Genetic Diagnositcs Center Location Ankara, Türkiye Job Description

The successful candidate should have advanced expertise in the clinical interpretation of whole-exome sequencing (WES) and whole-genome sequencing (WGS) data, along with a strong understanding of human genetics, rare diseases, genotype–phenotype relationships, and clinical variant interpretation. At Mikrogen, the candidate will be responsible for contributing to the routine clinical interpretation and reporting of genetic test results as part of the laboratory’s daily diagnostic workflow.

Start of job 01.11.2026 Job Requirements

Required Qualifications Advanced clinical experience in Medical Genetics, Molecular Biology and Genetics, Genomics, Bioinformatics or a closely related field Extensive professional experience in clinical exome and/or genome analysis Demonstrated expertise in human genetic disease and clinical variant interpretation Strong knowledge of Mendelian inheritance, penetrance, variable expressivity and genotype–phenotype relationships Proven experience with ACMG/AMP classification and clinical genomic databases Ability to independently evaluate complex and unsolved genomic cases Strong scientific publication and literature evaluation skills Excellent command of written and spoken English Preferred Qualifications Experience in rare disease diagnostics and research Experience with trio/family-based genome analysis Expertise in CNV, structural variant, mitochondrial or repeat expansion analysis Experience with population-specific genomic data Familiarity with functional validation of candidate variants Previous involvement in international genomics or rare disease research projects Experience supervising researchers or multidisciplinary genomic analysis teams

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Job Type Parttime