Bioinformatics Scientist I

Philadelphia, PA, US, 19104

Job Type: 

ROBERTS - Roberts Ctr Pediatric Research Req ID: 27530

Shift: Days

Employment Status: AF - Active - Regular - Full Time 

Job Summary

The Center for Data-Driven Discovery in Biomedicine (D3b - is seeking talented bioinformatics scientist to build and scale solutions for accelerating discovery and advancements in child health. We’re looking for creative problem solvers who can leverage software and system engineering to perform large-scale genomic analysis. You will be involved in research projects that contain large cross-disease cohorts which are being characterized with next-generation sequencing. The Bioinformatics Scientist I position is an entry level position for a non-PhD level professional. The focus of the position is development, maintenance, and evolution of the tools that support management and analysis of genomic, proteomic, and other complex molecular data types. This includes the support of internal bioinformatics software, implementation and modifications of existing algorithms, and execution of routine tasks of limited complexity within the general area of bioinformatics analysis. The position allows for a wide variety of activities described within the job responsibilities and encompasses positions within both research and clinical environments. All activities occur with a moderate to high degree of supervision and the individual will rely on a high degree of peer-to-peer mentorship. The Bioinformatics Scientist I is primarily focused on the support of higher level bioinformatics personnel but may have minor direct interaction with collaborators and designees to resolve primarily technical issues and solutions.

Job Responsibilities

Pre-Analysis (40%): Contributes to the maintenance and development of bioinformatics tool portfolio by developing knowledge of internally developed systems, open-source programs, and commercial applications. Provides efficient data management support.

  • Works with bioinformatics group members to develop functioning pipelines upstream of customized analysis workflows.
  • Maintains pipelines by staying current with evolving algorithms and standards and incorporating into pipeline.
  • Executes robust development testing for commonly used applications such as data processing pipelines.
  • Optimizes performance of applications by working with scientific computing and information systems groups to optimize hardware/software parameters.
  • Defines and prioritizes requirements for pipeline development over time to incorporate new technologies and platforms via functional communication with bioinformatics group members and bioinformatics end users.
  • Identifies appropriate open-source and commercial products that serve needs of pipeline and/or customized analyses of end users.
  • Implements and maintains commercial and open-source software for common bioinformatics and genomics data analysis.
  • Implements, updates and maintains locally stored data resources required for various analysis tasks.
  • Provides ad hoc support and one-on-one and group-based training on key bioinformatics software, features, and workflows.
  • Provides efficient data management support including file transfers, data formatting and manipulation, and basic integration of data from a variety of experimental and reference resources.
  • Develops and maintains working relationship with data providers such as sequencing cores within CHOP and infrastructure groups such as information systems.
  • Continually keeps abreast of evolving data generation platform fundamentals, file-specific information representation, and strategic application of code base to optimize value of data.
  • Maintains working knowledge of available commercial and openly accessible knowledge bases as they apply to bioinformatics analysis.
Job Responsibilities (Continued)

Coding (30%): Codes and generally supports both ad hoc, single task applications and larger pipeline applications that may combine multiple 3rd party and internally developed applications for genomics/proteomics/other complex data types and projects.

  • Implements, maintains, and regularly contributes to formal and bioinformatics group-centralized code management system.
  • Adopts appropriate forking and other strategies for robust code development. Apply to general bioinformatics group code base.
  • Adopts best practices for code development consistent with larger bioinformatics group. This includes choice of language based on the type of solution being developed, the likely life cycle and downstream usage of the resulting application, and integration with other systems.
  • Ensures that all routinely used tools (e.g. those included in shared analysis pipelines) are versioned and managed through a source control system.  
  • Ensures that configuration files that provide parameters to algorithms and analysis software are versioned and managed through a source control system.
  • Develops and implements automated data-driven testing processes that test reproducibility of results between versions of pipeline software.
  • Develops and implements automated deployment processes that build and configure systems from source control repositories, eliminating the need to manually modify configuration files.
  • Regularly documents code, troubleshoot, and provide training when necessary.


Data Analysis (10%): Analyzes data of high complexity by applying sound statistical and commonly accepted bioinformatics methods to -omics data under supervision from mentors and peers.

  • Develops robust analysis plans under supervision.
  • Incorporates QA/QC in analysis workflows.
  • Delivers analytical endpoints such as feature identification, annotation, characterization, prioritization, etc.
  • Reports results using, primarily, spreadsheets and, secondarily, abstracted materials such as slides and visuals.


Collaboration (10%): Works with both bioinformatics group members and end users/clients to understand specific needs in bioinformatics and end user-specific domains.

  • Attends group and team meetings and contributes primarily factual information regarding processes and approach.
  • Defers to mentors and peers in establishing relationships, but works within boundaries to accomplish analytical goals.


Academic Output (10%): Contributes to presentations, grants, and manuscripts under supervision by mentors and peers.

Required Education and Experience


Required Education: Bachelor’s Degree in biological or computational discipline.

Preferred Education, Experience & Cert/Lic

Preferred Education: Master’s Degree in biological or computational discipline.


Preferred Experience: Previous experience in applied bioinformatics, computational, and genomics/proteomics areas.

Additional Technical Requirements
  • Strong UNIX/LINUX expertise required.
  • Experience with R strongly preferred.
  • Experience with Python, Perl, or other languages preferred.
  • Experience with pipeline or workflow development frameworks preferred.
  • Experience with data management preferred.
  • Familiarity with open source and commercial bioinformatics resources and software preferred.
  • Experience with genomic data analysis preferred.
  • Experience or knowledge of technologies commonly used in biological labs, such as PCR, cloning, electrophoresis gels, and cell culture preferred.
  • Knowledge of the working mechanism of microarray, NGS, mass spectrometry, 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 preferred.
  • Accountability and attention to timelines.
  • Excellent organization and communication skills with an emphasis on strong presentation skills.
  • Ability to work in a team environment. 

All CHOP employees who work in a patient building or who provide patient care are required to receive an annual influenza vaccine unless they are granted a medical or religious exemption.

Children's Hospital of Philadelphia is committed to providing a safe and healthy environment for its patients, family members, visitors and employees. In an effort to achieve this goal, employment at Children's Hospital of Philadelphia, other than for positions with regularly scheduled hours in New Jersey, is contingent upon an attestation that the job applicant does not use tobacco products or nicotine in any form and a negative nicotine screen (the latter occurs after a job offer).

Children's Hospital of Philadelphia is an equal opportunity employer. We do not discriminate on the basis of race, color, gender, gender identity, sexual orientation, age, religion, national or ethnic origin, disability or protected veteran status.

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