Is the Job related to staff position within a Research Infrastructure?: NoOffer Description
Mikrogen Genetic Diagnosis Center is seeking a highly experienced researcher to join its clinical genomics and rare disease research activities.
The successful candidate will have advanced expertise in clinical interpretation of whole-exome sequencing (WES) and whole-genome sequencing (WGS) data, with a strong understanding of human genetics, rare diseases, genotype–phenotype relationships and clinical variant interpretation.
Where to apply
E-mail: dilaratunca@triplehelix.life
Requirements
Research Field: Biological sciences » Other
Education Level: Master Degree or equivalent
Skills/Qualifications
Required Qualifications
- Advanced research or 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
Specific Requirements: Clinical interpretation of WES and WGS data in rare and inherited diseases
Languages: ENGLISH, Level: Excellent
Additional Information
Work Location(s)
Number of offers available: 1
Company/Institute: 8591220342
Country: Türkiye
Contact
State/Province: Ankara
City: Ankara
Website: https://www.mikrogenlab.com
Street: Reşit Galip Caddesi No:18
Postal Code: 06680
E-Mail: dilaratunca@triplehelix.life
Phone: 05393978330
