Senior Clinical Genomics & Genome Analysis Expert

ESHG c/o WMA GmbH; Çankaya; Presencial; TRY 420.000 - 660.000; A tiempo parcial

Descripción de la vacante

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.

Formación

• 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.

Responsabilidades

• 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.

Conocimientos

Medical Genetics

Molecular Biology

Genomics

Bioinformatics

Exome/Genome Analysis

Herramientas

ACMG/AMP guidelines

Clinical genomic databases

Descripción del empleo

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.