Medical/Clinical Geneticist / Variant Analyst (M.D. and/or Ph.D.) (Accepting applications)

We are seeking a highly qualified Medical/Clinical Genetics Specialist or Variant Analyst with an M.D. or a Ph.D. for RareBoost Project. The ideal candidate will bring a robust combination of clinical acumen and research expertise, with a focus on genomic variant analysis using state-of-the-art sequencing technologies. This role integrates clinical responsibilities with advanced bioinformatics work, facilitating the bridge between laboratory findings and clinical application.

Key Responsibilities

• Analyze and interpret genetic variants from whole-exome sequencing (WES), whole-genome sequencing (WGS), long-read sequencing, and RNA sequencing (RNA-seq) data.
• Collaborate closely with clinicians to ensure effective communication of genomic findings and clinical implications.
• Write, track, and finalize clinical genetics reports, ensuring clarity, accuracy, and timely delivery.
• Lead and contribute to interdisciplinary projects involving clinical diagnostics and research initiatives.
• Maintain and apply up-to-date knowledge of bioinformatics tools, databases, and variant interpretation guidelines (e.g., ACMG, ClinVar, HGMD).

Required Qualifications

• Medical Degree (M.D.) and/or Ph.D. in a related field.

Skills & Experience

• Strong background in molecular biology, genomics, and human genetics.
• Proficient in using bioinformatics pipelines for variant calling and interpretation.
• Hands-on experience with WES, WGS, long-read technologies (e.g., Oxford Nanopore, PacBio), and RNA-seq.
• Familiarity with clinical-grade variant interpretation frameworks and reporting standards.
• Skilled in the integration of genetic and phenotypic data to support diagnosis and clinical decision-making.
• Proven ability to work in a cross-disciplinary environment involving clinicians, laboratory scientists, and data analysts.
• Excellent command of English, both written and verbal.

Preferred Skills

• Experience in genomic data curation, data visualization, and maintaining variant databases.
• Knowledge of regulatory and ethical considerations in genetic diagnostics.

How to apply

For additional information and for the application please send an email to rareboost@ibg.edu.tr