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As Illumina's Bioinformatics Support Scientist, you will support all bioinformatics activities in the CLIA/CAP service laboratories. These activities include the planning, implementation and troubleshooting of tools and data analysis pipelines. An excellent understanding of statistics, human genetics and laboratory sciences is essential as the position requires working in interdisciplinary teams. Excellent communication skills are necessary to communicate complex topics to a broad audience.
- Lead in the interpretation of sequencing data analysis results.
- Design and implement clinical validation plans to introduce new or improved protocols as CLIA/CAP laboratory offerings.
- Coordinate tasks in Systems Development Life Cycle (SDLC) such as collection of requirements, software verification, maintenance and clinical validation.
- Establish Quality Assurance bioinformatics related metrics and protocols based on assay design and performance.
- Lead deep dive investigations on key performance indicators as well as individual patient cases, as needed.
- Work collaboratively with bioinformatics and research scientists across the organization in developing, improving and deploying bioinformatics tools.
- Communicate findings to the research scientists and present results to the R&D, process engineering, and laboratory teams.
Required Skill and Experience:
- PhD in Bioinformatics, Genetics, Biostatistics, Epidemiology or related field with 0-2 years of relevant experience or MSc in Bioinformatics, Biostatistics, Epidemiology or related field and 4-5 years of relevant experience.
- Experience applying bioinformatics tools to next generation clinical sequencing protocols.
- Strong interpersonal skills; able to engage with and collaborate across inter-disciplinary groups.
- Demonstrable skill developing tools and analysis pipelines with R, python, Java or C#.
- Experience querying relational databases (SQL Server, MySQL, Postgres) and familiarity with database design approaches.
- Familiarity with web services and software application development.
- Familiarity with Laboratory Information Management Systems (LIMS).
- Understanding of security and privacy considerations in clinical software applications.
- Experience with genomic analysis of sequencing data – Whole Genome Sequencing, Exome Sequencing, ChIP-Seq, RNA-Seq.
- Experience with molecular diagnostics, particularly Non-Invasive Pre-natal Testing (NIPT) is highly desirable.
- Experience with machine learning, Bayesian statistics, clustering/classification, multivariate analysis.
- Ability to work independently with minimal supervision.
Illumina believes that everyone has the ability to make an impact, and we are proud to be an equal opportunity employer committed to providing employment opportunity regardless of sex, race, creed, color, gender, religion, marital status, domestic partner status, age, national origin or ancestry, physical or mental disability, medical condition, sexual orientation, pregnancy, military or veteran status, citizenship status, and genetic information. If you have a disability or special need that requires accommodation, please contact us at 858-246-8959. To learn more, visit: https://www.dol.gov/ofccp/regs/compliance/posters/pdf/eeopost.pdf