Clinical Genomic Scientist- Carrier Screening
Summary: The Clinical Genomics Scientist I anal yzes 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%) : c uration of variants, genes, and gene-disease correlation following ACMG guidelines Analysis ( 3 0%) : ana lyzing 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 s trong candidates with a Master’s degree and relevant experience. Desired: MB(ASCP) certification . Familiarity with American College of Medical Genetics (ACMG) variant curatio n guidelines . Knowledge of genomic variation and its correlation with human disease. E xpertise 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: e xperience 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 a ttend ing virtual meetings Occasional weekend rotation may be needed (for example, once a month)