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Responsibilities include:
1. Ensuring strict adherence to all laboratory procedures
2. Ensuring work compliance with ISO15189
3. Reviewing and approving clinical diagnostic reports for NGS and other genetic assays
4. Assisting with data analysis
5. Assisting in the development of new genomic assays
6. Using Bioinformatics packages and variant interpretation/reporting software
7. Delivering presentations on NGS diagnostic tests as required
The Role
Same responsibilities as above, emphasizing compliance, review, development, and presentation tasks.
Skills and Experience
Essential
* Honours degree in a suitable Life Science discipline (2:1 or above)
* Registered with HCPC as a Clinical Scientist in molecular genetics/genomics
* Membership in professional societies such as BSGM, RCPath
* Experience in Molecular Diagnostic Testing, sequence variant interpretation, and clinical reporting
* At least 3 years in a clinical diagnostic laboratory or equivalent
* Excellent presentation, communication, time management, organizational, and database skills (Proficient in Microsoft Office)
* Ability to work independently
Desirable
* Further qualification (MSc or PhD) in relevant molecular genetics discipline
* Experience with clinical interpretative reporting of NGS panel tests for inherited disorders, exomes, genomes, or viral genomes
* Experience with Bioinformatics packages and variant interpretation
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