The Genomic Diagnostic Laboratory (GDL) of the Children’s Hospital of Philadelphia is seeking a Bioinformatics Scientist II with an interest in laboratory diagnostics to join our team. This is an exciting opportunity to work collaboratively within the bioinformatics team and together with our laboratory directors, supervisors, analysts, genetic counselors, and wet bench team to develop and improve pipelines and other tools to support accurate, timely diagnostic testing that has a direct impact on establishing the diagnosis, prognosis, treatment, and management plan for our patients. The team also supports cutting edge R&D efforts including new clinical test development and clinical research. The position is temporarily remote with the potential for long term remote flexibility. Seasoned professionals are welcome to apply and will be considered for the position commensurate with their experience.

The focus of the position is service-level application of bioinformatics tools and methods to address problems and needs in the clinical diagnostic tests. The position allows for a wide variety of activities described within the job responsibilities and encompasses positions mainly within clinical environments. Activities occur with a moderate degree of supervision with some latitude for independent judgment, development of bioinformatics workflows and processes, and presentation of results for NGS-based clinical tests. The Bioinformatics Scientist II will begin to apply best practices in collaborative science as a bioinformatics domain expert. Academic output, while not a primary focus of this position, is also expected with a moderate degree of supervision. The Bioinformatics Scientist II is primarily focused on developing framework and algorithms supporting clinical diagnostic tests as a bioinformatics domain expert.

The Bioinformatics Scientist II must be able to perform all responsibilities listed in the Bioinformatics Scientist I job description. All responsibilities listed in this description are additional.

Please apply the job at the link: https://career4.successfactors.com/sfcareer/jobreqcareer?jobId=118772&company=C0000169453P

• Four (4) or more years of experience in applied bioinformatics, genomics, and computational work. This experience can be inclusive of a relevant PhD dissertation.
• Experience with Python, Perl, or other languages.
• Strong UNIX/LINUX expertise required.
• Experience with machine learning and data modeling in genomic data
• Experience with NGS pipeline or workflow development frameworks, e.g. WDL and airflow.
• Knowledge of the working mechanism of NGS, SNP array or other high-throughput technologies and awareness of their strengths and weaknesses, as well as applicability to a specific biological problem is preferred.
• Familiarity with resources of genomic data sets and analysis tools, such as UCSC Genome Browser, Bioconductor, ENCODE, and NCBI databases is required.
• Experience or knowledge of technologies commonly used in biological labs is preferred, such as PCR, cloning, electrophoresis gels, and cell culture.
• Ability to interact with biologists and clinicians during a scientific discussion is required.
• Accountability and attention to timelines.
• Excellent organization and communication skills with an emphasis on strong presentation skills.
• Ability to independently plan and execute analyses of moderate complexity required.
• Ability to provide objective validation of results required.
• Ability to work in a team environment.