The Illumina Clinical Services Laboratory, within the Clinical Genomics Group at Illumina, is seeking a PhD Geneticist who will be a key member of a team responsible for integrating genetic, medical and laboratory principles to the application of clinical genome sequencing. In this role the PhD Geneticist will be primarily involved in supporting undiagnosed disease cases that receive genome sequencing in the Illumina Clinical Services Laboratory as well as in designing controlled validations for bringing in enhancements to clinical whole genomic sequencing.
This position will integrate medical, professional and regulatory requirements of clinical sequencing, genetics expertise, and the Illumina sequencing platforms. Individuals will be required to combine their genetics and clinical expertise with regulatory standards and best practices to analyze genomes for clinical indication. Individuals will work under the supervision of medical geneticists. This position will help build and guide the future development of clinical NGS implementation.
This is an opportunity to play a role in laying the foundation in genomic medicine with a company that is a leader in transforming next generation sequencing.
Duties will include:
- Problem-solving and strategizing for assessment of analytical and clinical characteristics of genetic variants
- Ongoing analysis of clinical literature and application to genetic information
- Support collaborations and external program development
- Designing controlled validations for bringing in enhancements to clinical WGS
The ideal candidate will exhibit:
- Strong understanding of genetics and genotype-phenotype relationships
- Ability to analyze medical and scientific literature
- Strong analytical and problem solving skills
- Familiarity with statistical analyses
- Familiarity with clinical applications of genetic information
- Familiarity with professional and regulatory requirements of a clinical laboratory
- Familiarity with informatics and bioinformatic approaches to analysis and management of large datasets, data mining
- Ability to manage multiple projects and deliver in a time-sensitive manner