Clinical Genomic Scientist- Curation

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. Position supports remote work with daily huddles, clear objectives, and flexible scheduling.

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

• PhD or MD in clinical medicine, genetics, molecular biology, or equivalent. Or strong candidates with a Master's degree and relevant experience, such as genetic counseling, and relevant experience will be considered
• 0-2 years relevant experience in variant curation or clinical genomics; new graduate with Ph.D./M.D. or Master's with appropriate experience acceptable

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
• Punctuality in attending virtual meetings
• Occasional weekend rotation may be needed (for example, once a month)