Clinical Genomic Scientist- Curation

KEY RESPONSIBILITIES: Curate variants, genes, and gene-disease correlations following ACMG guidelines using internal dataset, online resources, and published literature Analyze clinical genomics data including NGS, Sanger sequencing, metabolomics, and chromosomal microarray; select variants for curation/confirmation; apply HGVS nomenclature Draft clinical reports for review Document data-quality findings, variant evidence, source references, discrepancy resolution, and required confirmation or repeat-analysis decisions in the case record. Escalate unexpected, discrepant, incomplete, or technically limited cases to qualified supervisory or clinical personnel before final report review. Support test validation, process refinement, and present findings at meetings Maintain knowledge of genomic variation and its relationship to human disease Apply data quality assessment principles Adhere to Code of Conduct per Baylor Genetics Compliance Program Perform other duties as assigned KEY DUTIES & TIME ALLOCATION Curation (50%): curation of variants, genes, and gene-disease correlation following ACMG guidelines. Analysis (30%): analyzing clinical genomics data, selecting variants for curation/confirmation, and 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

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 a screen, keyboard, and mouse.

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. Equal Opportunity Employer This employer is required to notify all applicants of their rights pursuant to federal employment laws. For further information, please review the Know Your Rights notice from the Department of Labor.

Qualifications: Skills Preferred MS in Gen Counseling or PhD in Gen/Mol Bio Expert Knowl of ACMG/AMP variant interp Expert Clinical Gen & report writing exp Expert Literature review & evidence evaluation Expert Underst of clinical Gen Expert Famil w/ NGS workflows & seq data Expert exp w/ ClinVar, OMIM, gnomAD, & HGMD Expert knowl of CAP/CLIA quality standards Expert Expert Expert Education Required PHD or better in Molecular Cell Sciences.