وصف الوظيفة
The PhD bioinformatician will be responsible for programming bioinformatics pipelines for genomics and Next Generation Sequence (NGS) testing in clinical diagnostics and will support clinical operations and lab informatics systems using on-premises and cloud computing platforms. He is expected to have a strong background in programming and a disciplined approach to maintaining the highest standards of data validation and governance with the application of software development best practices. He will manage projects, deliver data, and communicate results. Other responsibilities include research and development within the clinical lab, which involves preparing and analyzing data sets using data science techniques, including the ability to present findings as needed.
MAJOR RESPONSIBILITIES:
- Implements and validates bioinformatics tools and pipelines for clinical NGS test development.
- Develops, evaluates, adapts, validates, and implements software to identify and minimize gaps in NGS variant calling and annotation for optimal patient care.
- Participates in the optimization of NGS data review and assists in both bioinformatics workflow and variant interpretation to create reports that are compatible with the lab information system.
- Ensures appropriate archiving of data while creating methods for retrieval of archived data for future evaluation and quality assurance needs.
- Ensures compliance with CAP requirements and adheres to transaction, security, and confidentiality regulations.
- Participates in all testing phases associated with applications during implementation and upgrade deployments.
- Participates in the evaluation of future hardware and software acquisitions.
- Collaborates with other software developers, IS teams, application staff, and information system users to evaluate, plan, design, develop, test, implement, and maintain application development efforts and reports.
- Works with laboratory directors, pathologists, laboratory professionals, and other scientific members to optimize and validate new analytical tools and processes.
متطلبات الوظيفة
A- Education: Doctor of Philosophy (PhD) degree in bioinformatics
B- Work Experience: Minimum of 2 years of professional work experience in human genome NGS raw data analysis.
C- Language: English
D- Age: 25-55 years old
E- Required Skills, Knowledge, and Abilities:
- Effective communication and interpersonal skills.
- Ability to work independently and as part of a team.
- Skillful in command-line operating systems, programming languages, and bioinformatic software packages.
- In-depth familiarity with various public genomic databases, bioinformatics algorithms, and statistical software tools and packages such as R.
- Understanding of or experience with laboratory genomics workflows and CAP regulatory requirements.
- Proficiency in programming and scripting languages (e.g., Python, Perl, Ruby, and/or Javascript) to handle and manipulate large data sets scripting.
- Skilled in data mining and machine learning.
- Familiarity with at least one database language, such as MySQL and Oracle.
- Experience in building SNV and CNV databases.
- Sufficient knowledge of the development cycle and management of web-based applications.
- Experience with cloud computing.
- Familiar with commercial bioinformatics tools.
- High level of interest to train non-bioinformatics scientists.