• Degree: PhD or MD level degree in clinical medicine, genetics, molecular biology, or an equivalent subject. Strong candidates with a Master’s degree and appropriate experience will be considered.
  • Relevant experience: 4-7 years
  • Certification (optional): MB(ASCP)

Experience:

• Knowledge of genomic variation and its relationship to human disease
• Knowledge of literature curation methodologies.
• Knowledge of variant detection, molecular mechanisms of disease, functional assays, and computational analysis.
• Technical expertise in clinical medicine, genetics, genomics, or molecular biology.
• Experience with data quality assessment.
• Excellent verbal and written communication skills.
• Proficiency in communicating an understanding of genetics details.
• Knowledge of principles and practices of data analysis as applied to experimental results.
• Experience in the application of ontologies for medical/biological annotation.
• An understanding of bioinformatics analysis to identify variants within genomic data sets, and variant effect prediction algorithms (desired).
• Experience with use of Perl, Python, or other programming language (desired).
• Ability to create scripts and process large quantities of data (desired).

DUTIES AND RESPONSIBILITIES:

• 50%: curation of variants, genes, and gene-disease correlations following ACMG guidelines, using our robust internal dataset, online resources, and published literature.
• 30%: analyzing clinical genomics data, including next-generation sequencing, Sanger sequencing, metabolomics, and chromosomal microarray.
• 10%: clinical report drafting.
• 10%: validation, process refinement, presenting findings at meetings, and performing other duties as needed.

• Adheres to Code of Conduct as outlined in the Baylor Genetics Compliance Program
• Performs other job-related duties as assigned.

PHYSICAL DEMANDS AND WORK ENVIRONMENT:

• Frequently required to sit
• Frequently required to stand
• Frequently required to utilize hand and finger dexterity
• Frequently required to talk or hear
• Frequently required to utilize visual acuity to operate equipment, read technical information, and/or use a keyboard
• Occasionally exposed to bloodborne and airborne pathogens or infectious materials