Clinical Genomic Scientist- Curation

Baylor Genetics•,

8d•Remote

About The Position

The Clinical Genomics Scientist I analyzes clinical genetics data, curates variants and genes, and summarizes findings for clinical reports. The scientist assists laboratory directors and R&D with validation of cutting-edge technologies and software platforms. The position supports remote work with daily huddles, clear objectives, and flexible scheduling. Work is allocated approximately 50% to curation of variants, genes, and gene-disease correlations following ACMG guidelines; 30% to analyzing clinical genomics data, selecting variants for curation or confirmation, and applying HGVS variant nomenclature; and 20% to other activities, which may include drafting clinical reports, test validation, process refinement, presenting findings, monitoring test turnaround time, and task delegation.

Requirements

PhD or MD in clinical medicine, genetics, molecular biology, or an equivalent field; strong candidates with a Master's degree and relevant experience, such as genetic counseling, may also be considered.
0–2 years of relevant experience in variant curation or clinical genomics; new graduates with a PhD or MD, or a Master's degree with appropriate experience, are acceptable.
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.
Excellent medical-language reading and writing skills.
Proficiency in Microsoft Office, including Excel, Word, PowerPoint, and Outlook.

Responsibilities

Curate variants, genes, and gene-disease correlations following ACMG guidelines, using internal datasets, online resources, and published literature.
Analyze clinical genomics data, including NGS, Sanger sequencing, metabolomics, and chromosomal microarray data.
Select variants for curation or confirmation and apply HGVS nomenclature.
Draft clinical reports for review.
Document data-quality findings, variant evidence, source references, discrepancy resolution, and decisions about required confirmation or repeat analysis in case records.
Escalate unexpected, discrepant, incomplete, or technically limited cases to qualified supervisory or clinical personnel before final report review.
Support test validation and 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 the Code of Conduct under the Baylor Genetics Compliance Program.
Perform other duties as assigned.