Clinical Genomics Scientist: Variant Curation & Reporting

Socket.dev; United States; On-site; USD 120,000 - 180,000; Full time

Job summary

Baylor Genetics is seeking a Clinical Genomics Scientist to analyze clinical genetics data, curate variants and genes, and summarize findings for clinical reports. Our scientists assist laboratory directors and R&D with validation of cutting-edge technologies and software platforms.

Responsibilities include variant curation per ACMG guidelines, HGVS nomenclature, data quality, and collaboration across teams; and potential involvement in report drafting, test validation, and process improvement

Qualifications

• PhD or MD in clinical medicine, genetics, molecular biology or equivalent.
• Or strong candidates with a Master’s degree and relevant experience.
• 2-4 years of variant curation experience.

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.

Skills

ACMG guidelines

Genomics data analysis

Variant curation

Medical terminology writing

Bioinformatics scripting

Education

PhD/MD in clinical medicine/genetics/molecular biology or equivalent

Master’s degree with relevant experience

Tools

Microsoft Office

Job description

Baylor Genetics is seeking a Clinical Genomics Scientist to analyze clinical genetics data, curate variants and genes, and summarize findings for clinical reports. Our scientists assist laboratory directors and R&D with validation of cutting-edge technologies and software platforms.

Responsibilities include variant curation per ACMG guidelines, HGVS nomenclature, data quality, and collaboration across teams; and potential involvement in report drafting, test validation, and process improvement