JOB 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.
KEY 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
Required
- 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.
- Experience in bioinformatics analysis, variant effect prediction algorithms, and scripting languages.
COMPETENCIES
- 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).
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).
EEO STATEMENT
Baylor Genetics is proud to be an equal opportunity employer committed to fostering an inclusive and diverse workplace. We welcome and encourage applicants from all backgrounds to apply. We do not discriminate on the basis of race, color, religion, national origin, sex, sexual orientation, gender identity, age, veteran status, disability, genetic information, pregnancy, childbirth, or any other status protected by applicable federal, state, or local law. If you need an accommodation during the application process, please contact our Human Resources team.
