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)