Job Description
Summary:The "Clinical Genomics Scientist" 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.
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.
- 2-4 years of experience in clinical genomics or related fields (including postdoctoral appointments)
- 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
Competencies: Quality Assurance, Analytical, Problem Solving, Technical Skills, Interpersonal Skills, Oral and Written Communication, Teamwork, Organizational Support, Safety and Security, Dependability, Innovation, Adaptability.
Physical Demands and Work Environment: - At your Home Office:
- Frequently required to sit, using screen, keyboard, and mouse.
- Punctuality attending virtual meetings
- Occasional weekend rotation may be needed (for example, once a month)
PHYSICAL DEMANDS AND WORK ENVIRONMENT:
- Frequently required to sit.
- Frequently required to utilize hand and finger dexterity.
- Frequently required to talk or hear.
