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)