Clinical Genomic Scientist – Curation

This is a fully remote position, open to applicants in United States.

📋 Description

• Conduct analysis of clinical genetics data.

• Curate variants, genes, and gene-disease associations in accordance with ACMG guidelines utilizing internal datasets, online resources, and published research.

• Analyze Next-Generation Sequencing (NGS), Sanger sequencing, metabolomics, and chromosomal microarray data.

• Identify variants for curation or validation and implement HGVS nomenclature.

• Prepare clinical reports for review.

• Record findings related to data quality, variant evidence, source references, discrepancy resolutions, and decisions regarding confirmation or re-analysis.

• Escalate any unexpected, inconsistent, incomplete, or technically limited cases to qualified supervisory or clinical staff.

• Assist in test validation and process improvement.

• Present findings in meetings.

• Stay informed about genomic variation and its implications for human health.

• Utilize principles of data quality assessment.

• Oversee test turnaround times and allocate tasks as required.

• Comply with the Baylor Genetics Compliance Program Code of Conduct.

• Carry out additional duties as assigned.

⛳️ Requirements

• PhD or MD in clinical medicine, genetics, molecular biology, or related field; exceptional candidates with a Master’s degree and relevant experience, such as genetic counseling, will be considered.

• 0–2 years of relevant experience in variant curation or clinical genomics; recent graduates holding a Ph.D./M.D. or a Master's with suitable experience are acceptable.

• Familiarity with the American College of Medical Genetics (ACMG) variant curation guidelines.

• Understanding of genomic variation and its connection to human disease.

• Proficiency in clinical medicine, genetics, genomics, or molecular biology.

• Experience in data quality assessment and the ability to communicate genetic information effectively.

• Strong skills in reading and writing medical terminology.

• Proficient in Microsoft Office Suite (Excel, Word, PowerPoint, Outlook).

• Expertise in ACMG/AMP variant interpretation.

• Experience in clinical genetics and report writing.

• Strong background in literature review and evidence assessment.

• Familiarity with NGS workflows and sequencing data.

• Experience with ClinVar, OMIM, gnomAD, and HGMD.

• Knowledge of CAP/CLIA quality standards.

• Excellent organizational, data quality, and prioritization abilities.

• Outstanding communication and collaboration skills.

🏝️ Benefits

• Opportunity for remote work with daily huddles, clear objectives, and flexible scheduling.

• Potential for occasional weekend rotation (approximately once a month).

• Equal opportunity employer dedicated to promoting an inclusive and diverse workplace.

• Support available for accommodation during the application process.