Clinical Genomic Scientist- Carrier Screening

Summary: 

The Clinical Genomics Scientist I 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.  

The Clinical Genomics Scientist I position is a remote work opportunity, with daily huddles, clear objectives, and flexible scheduling. Come join our team from the comfort of your home office! 

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 and task delegation 

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.  

• Familiarity with 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)