Clinical Genomic Scientist I

About the role

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.

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.

Requirements

• PhD or MD in clinical medicine, genetics, molecular biology, or equivalent. Strong candidates with a Master’s degree and relevant experience will also be considered.
• Experience in bioinformatics analysis, variant effect prediction algorithms, and scripting languages.

Skills

• 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 and writing medical language.
• Proficiency in Microsoft Office (Excel, Word, PowerPoint, Outlook).
• Desired: MB(ASCP) certification.

Physical Demands and Work Environment

• Frequently required to sit, using screen, keyboard, and mouse.
• Punctuality attending virtual meetings.
• Occasional weekend rotation may be needed (for example, once a month).