Job Summary
As a Senior Clinical Genomic Scientist, you will assume a leadership role in variant curation, data analysis, and interpretation in alignment with ACMG guidelines. This position significantly contributes to interpreting genomic data within clinical contexts, providing expertise, and guiding junior team members.
Qualifications and Experience:
- Senior Clinical Genomic Scientist:
- Degree: PhD or MD in clinical medicine, genetics, molecular biology, or equivalent.
- Relevant Experience: 7+ years of demonstrated experience in the field.
- Certification: Optional: MB(ASCP).
- Profound knowledge of genomic variation, its impact on human diseases, and expert-level literature curation methodologies.
- Mastery in variant detection, molecular disease mechanisms, functional assays, and computational analysis.
- Technical expertise in clinical medicine, genetics, genomics, or molecular biology, coupled with extensive experience in data quality assessment.
- Exceptional verbal and written communication skills, capable of conveying complex genetic information effectively.
- Proficient in the application of ontologies for medical annotation and experienced in bioinformatics analysis for variant identification within genomic datasets.
Duties and Responsibilities:
- 50%: Lead and oversee the curation of variants, genes, and gene-disease correlations following ACMG guidelines, utilizing extensive datasets, online resources, and published literature.
- 30%: Perform comprehensive analysis of clinical genomics data involving various techniques such as next-generation sequencing, Sanger sequencing, metabolomics, and chromosomal microarray.
- 10%: Draft clinical reports, manage validation processes, refine methodologies, and present findings in meetings, demonstrating leadership and expertise.
- 10%: Provide mentorship, guidance, and training to junior team members, actively participating in process improvements and additional duties as needed.
PHYSICAL DEMANDS AND WORK ENVIRONMENT:
- Frequently required to sit.
- Frequently required to utilize hand and finger dexterity.
- Frequently required to talk or hear.
