Bioinformatics Specialist

Department
 

BSD HGD - Molecular Diagnostics

About the Department
 

The Department of Human Genetics is the home within the Division of Biological Sciences for the study of basic principles of genetics and genomics as applied to human evolution, health, and disease. We provide broad training in field work, experimental genetics and genomics, statistical and population genetics, bioinformatics, and clinical molecular genetics. Our faculty bridge between basic and clinical research, and perform studies in people as well as in animal and cell models, and train students for careers in academia, industry, and medicine. The highly focused and integrated research in HG has resulted in extensive networks of collaboration among our faculty, as well as with faculty in other departments and divisions of the university.

Job Summary
 

The Genetic Services Laboratory at the University of Chicago is a CLIA and CAP certified and accredited laboratory that performs both clinical and research activities pertaining to the understanding of the molecular basis and diagnosis of rare orphan genetic diseases. The laboratory performs a variety of DNA-based techniques for mutation detection and is involved in the continuous development of new assays for mutation detection in new disease genes, as well as in the development and application of new technologies for the improvement of disease diagnostics.
We are seeking a bioinformatician, to work with our bioinformatics group, to maintain and develop essential lab applications and provide bioinformatics support for next generation sequencing-based clinical testingThe candidate will work largely on the support and maintenance of analysis pipelines for automated processing of data from next generation sequencing projects in the Genetic Services Laboratory, Department of Human Genetics. The candidate will be expected to maintain and upgrade our in-house developed LAMP stack based NGS data review system. The candidate will also work on new assay design, development and validation. The candidate will be expected to work with laboratory personnel to design, develop, test and execute custom applications for laboratory automation including interfaces to/from scientific instruments and the Laboratory Information System (LIS). This position can be on-site or remote.

Responsibilities

• Supporting and maintaining automated analytic pipelines for next generation sequencing data analysis.

• Maintaining and upgrading our in-house NGS data analysis and review system.

• Documenting scripts and updates in a systematic and detailed manner.

• Troubleshooting software and hardware related issues with lab servers and desktops.

• Maintaining accurate records of all activities carried out in conjunction with different projects.

• Attending lab meetings/exome meetings and reading current journal articles pertaining to relevant projects.

• Develop programs to perform analyses and generate both routine and ad hoc reports. 

• Guides with researchers to analyze problems, recommend technology-based solutions, or determine computational strategies. 

• Performs other related work as needed.

Minimum Qualifications
 

Education:

Minimum requirements include a college or university degree in related field.

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Work Experience:

Minimum requirements include knowledge and skills developed through 5-7 years of work experience in a related job discipline.

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Certifications:

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Preferred Qualifications

Education:

• Bachelor's or Master's degree in bioinformatics or a related field.

Experience:

• Work experience related to the analysis of high-throughput sequencing.

• Knowledge and demonstrated experience of the following languages is essential:  Perl/Python, PHP5, MySQL, HTML, JavaScript, CSS, BASH.

• Experience in version control with git.

• Strong ability to administer/navigate Linux/Unix and OSX environments.

• Experience with creating and maintaining databases with MySQL.

• Knowledge of various next generation sequencing data analysis tools such as BWA, GATK, SAMTOOLS, Picard, snpEff, Annovar etc.

• Experience with developing, deploying and managing NGS data analysis pipelines.

• Experience with HPC job submission, monitoring and debugging.

• Ability and willingness to pick up new programming languages as necessary.

• Ability to coordinate multiple projects in a demanding research and diagnostic environment.

• Strong communication and organizational stills.

• Background in genetics.

• Experience with CAP/CLIA protocols/requirements.

Working Conditions

• Office environment - onsite or remote.

Pay Range

• 100K to 130K

Application Documents

• Resume (required)

• Cover Letter (preferred)

• List of at least 3 reference contacts (required)

When applying, the document(s) MUST  be uploaded via the My Experience page, in the section titled Application Documents of the application.

Job Family
 

Research

Role Impact
 

Individual Contributor

FLSA Status
 

Exempt

Pay Frequency
 

Monthly

Scheduled Weekly Hours
 

40

Benefits Eligible
 

Yes

Drug Test Required
 

No

Health Screen Required
 

No

Motor Vehicle Record Inquiry Required
 

No

Posting Statement
 

The University of Chicago is an Affirmative Action/Equal Opportunity/Disabled/Veterans and does not discriminate on the basis of race, color, religion, sex, sexual orientation, gender, gender identity, national or ethnic origin, age, status as an individual with a disability, military or veteran status, genetic information, or other protected classes under the law. For additional information please see the University's Notice of Nondiscrimination.

 

Staff Job seekers in need of a reasonable accommodation to complete the application process should call 773-702-5800 or submit a request via Applicant Inquiry Form.

 

We seek a diverse pool of applicants who wish to join an academic community that places the highest value on rigorous inquiry and encourages a diversity of perspectives, experiences, groups of individuals, and ideas to inform and stimulate intellectual challenge, engagement, and exchange.

 

All offers of employment are contingent upon a background check that includes a review of conviction history.  A conviction does not automatically preclude University employment.  Rather, the University considers conviction information on a case-by-case basis and assesses the nature of the offense, the circumstances surrounding it, the proximity in time of the conviction, and its relevance to the position.

 

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