Clinical Genomics Scientist - Variant Interpretation

CO00 Children's Hospital Medical Center; Kasota (MN); On-site; USD 110,000 - 140,000; Full time

Job summary

Cincinnati Children’s Hospital Medical Center is seeking a PhD-level scientist to lead variant interpretation and data analysis in a clinical genetics laboratory. You will work with a team of genomic scientists, bioinformaticians, genetic counselors, and directors to perform NGS data processing and clinical interpretation for diagnostic testing.

The role involves developing and validating tests and maintaining high-quality genomic diagnostics, with collaboration across clinical and research

Qualifications

• PhD 3+ years of work experience in a related job discipline.

Responsibilities

• Conduct research and genetic data analysis including variant interpretation for clinical genome sequencing and NGS panels.
• Review patient clinical history and notes to inform genotype-phenotype correlations.
• Perform pathogenicity assessment of variants with gene-level information.
• Develop and validate new assays and protocols; document procedures and results.
• Collaborate with physicians, genetic counselors and laboratory personnel to ensure high-quality clinical diagnostics.

Skills

Genomic data analysis

Variant interpretation

Clinical data interpretation

Team collaboration

Education

PhD or equivalent in molecular genetics/molecular biology

MSc in Genetic Counselling encouraged

Tools

OMIM

HGMD

ClinVar

gnomAD

Job description

Cincinnati Children’s Hospital Medical Center is seeking a PhD-level scientist to lead variant interpretation and data analysis in a clinical genetics laboratory. You will work with a team of genomic scientists, bioinformaticians, genetic counselors, and directors to perform NGS data processing and clinical interpretation for diagnostic testing.

The role involves developing and validating tests and maintaining high-quality genomic diagnostics, with collaboration across clinical and research