Summary:
The “Clinical Genomics Scientist Senior” analyzes clinical genetics data, curates variants and genes, and summarizes findings for clinical reports. Our scientists assist laboratory directors and R&D with validation of cutting-edge technologies and software platforms. This role will also involve leading tasks and/or projects and will involve process improvement initiatives.
Duties and Responsibilities:
- Curation (50%): curation of variants, genes, and gene-disease correlation following ACMG guidelines
- Analysis (30%): analyzing clinical genomics data, selecting variants for curation/confirmation, variant nomenclature following HGVS guidelines
- Other (20%): may involve clinical report drafting, test validation, process refinement, presenting findings, monitoring test turnaround time
Qualifications/Experience
- Degree: PhD or MD in clinical medicine, genetics, molecular biology, or equivalent. Or strong candidates with a Master’s degree and relevant experience. Desired: MB(ASCP) certification.
- 7+ years of experience in clinical genomics or related fields (including postdoctoral appointments)
- Track record of high quality, leading projects toward goals, deep understanding of complex variant curation concepts, broad range of expertise, training coworkers, demonstration of workflow process improvement
- Thorough understanding of the American College of Medical Genetics (ACMG) variant curation guidelines.
- Knowledge of genomic variation and its correlation with human disease.
- Expertise in concepts of clinical medicine, genetics, genomics, or molecular biology.
- Experience in data quality assessment and communicating genetic details effectively.
- Excellence in reading/writing medical language.
- Proficiency in Microsoft Office (Excel, Word, PowerPoint, Outlook).
- Desired: experience in bioinformatics analysis, variant effect prediction algorithms, and scripting languages
