Senior Clinical Informatics Quality Scientist

Job Location
Red Wood City, CA
Job Description

You will be part of a collaborative, cross-functional team of biologists, bioinformaticians, and software engineers building powerful tools that help prioritize and understand the significance of genetic variants in disease.  You will use your foundation in biological science and programming skills to assure the scientific quality of biological interpretations, supporting analytics, and information in our applications.  This is an excellent opportunity to be directly involved in building a high-quality product that can improve genetic medicine and make an impact on human healthcare.  Training will be provided.

Duties and responsibilities:
- Work with product owners, scientific and technical team members to understand and refine requirements, use cases, and workflows of product features
- Think critically about our content and technology and develop methods, including writing and maintaining code, for testing scientific quality and analyzing defects
- Work with team members to select appropriate test sets and assure on-going, regular, timely, critical review, and manual testing of variant content and clinical interpretations
- Communicate testing status and assure successful delivery of quality metrics that will be used to improve our variant content curation, workflows, and determine release readiness
- Participate in the definition, honing, and documentation of QC protocols, tools, and methods, and interface with content curation scientists on using them
- Investigate and report defects found and assess risk.  Be a passionate voice of our scientific product customers internally.


Position Requirements

- 5+ years of experience in curation from scientific literature and analysis of genetic data
- Strong foundation in molecular genetics (preferably human genetics), understanding of heredity
- Excellent critical reading and interpretation of scientific publications, research of genomic or disease databases
- Familiarity with DNA sequence analysis, NGS technologies and data interpretation
- Proven ability to solve problems and analyze data using programming skills, especially in one or more of the following: Perl, Python, R, shell, JavaScript, or Java
- Experience analyzing and defining requirements, and translating them into technical specifications
Preferred (one or more of the following):
- Experience in variant interpretation, familiarity with genome browsers, human disease mutation databases, and functional annotation sources
- Knowledge of basic statistics
- Knowledge of one or more of the following: Information Extraction, ontology, semantic technology, Natural Language Processing (NLP), data mining, machine learning, database design and programming (e.g. SQL, Oracle), object-oriented programming (OOP), or application development
- Knowledge of software development best practices, quality controls, testing techniques
- Experience with documentation, project planning, and issue tracking systems
- Education: MD, PhD in genetics, molecular biology, computational biology, bioinformatics, or related field, or equivalent experience

Personal Requirements

- Excellent critical thinking, analytic and problem solving skills
- Energetic, efficient, organized, strong attention to detail, and open-minded
- Excellent verbal and written communication skills, teamwork, and time management abilities
- Enthusiastic to learn new technologies, including bioinformatics tools, explore diverse content, and algorithms
Preferred (one or more of the following):
- Supervisory, leadership, project management, teaching, or mentoring experience
- Working with international team members

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