Clinical Genomics Scientist: Variant Curation & Reporting

Baylor Genetics; Northern (KY); Hybrid; USD 110,000 - 170,000; Full time

Job summary

Baylor Genetics is seeking a Clinical Genomics Scientist II to analyze clinical genetics data, curate variants and genes, and summarize findings for clinical reports.

You will assist laboratory directors and R&D with validation of cutting-edge technologies and software platforms, and contribute to test turnaround time improvements and data quality.

Advanced degrees or equivalent experience are expected, with expertise in ACMG guidelines, HGVS nomenclature, and bioinformatics tools.

Qualifications

• PhD or MD in clinical medicine, genetics, molecular biology or equivalent.
• Or Master’s degree with 2-4 years of variant curation experience.
• MB(ASCP) certification is preferred.

Responsibilities

• Curation: curation of variants, genes, and gene-disease correlation following ACMG guidelines.
• Analysis: analyzing clinical genomics data, selecting variants for curation/confirmation, nomenclature per HGVS guidelines.
• Other: may involve clinical report drafting, test validation, process refinement, presenting findings, monitoring turnaround time.

Skills

Variant curation

Variant interpretation

Phenotype correlation

Data quality assessment

Clinical reporting

Cross-functional collaboration

Microsoft Office

Bioinformatics exposure

Education

PhD or MD in clinical medicine/genetics/mol biology

Master’s degree with 2-4 years variant curation experience

MB(ASCP) certification (preferred)

Tools

HGVS nomenclature knowledge

ACMG guidelines familiarity

SOPs, CAP/CLIA knowledge

Job description

Baylor Genetics is seeking a Clinical Genomics Scientist II to analyze clinical genetics data, curate variants and genes, and summarize findings for clinical reports.

You will assist laboratory directors and R&D with validation of cutting-edge technologies and software platforms, and contribute to test turnaround time improvements and data quality.

Advanced degrees or equivalent experience are expected, with expertise in ACMG guidelines, HGVS nomenclature, and bioinformatics tools.