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 disease. We provide broad training in experimental genetics and genomics, statistical and population genetics, bioinformatics, and clinical genetics. A common theme throughout our research is the application of basic genetic principles and strategies to the study of disease mechanism, disease susceptibility, and the genetic architecture of complex traits. Our faculty bridge between basic and clinical research and train students for careers in academia, industry, and medicine.
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 testing. This position can be on-site or remote.
The 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).
Responsibilities
Supports and maintains automated analytic pipelines for next generation sequencing data analysis.
Maintains and upgrades our in-house NGS data analysis and review system.
Documents scripts and updates in a systematic and detailed manner.
Maintains accurate records of all activities carried out in conjunction with different projects.
Attends lab meetings/exome meetings and reading current journal articles pertaining to relevant projects.
Applies basic application of computational tools and information technology to gather, analyze and visualize data in biology and biomedical research.
Plans own resources to implement or modify existing web-based bioinformatics tools.
Performs other related work as needed.
Minimum Qualifications
Education:
Minimum requirements include a college or university degree in related field.
--- Work Experience:
Minimum requirements include knowledge and skills developed through 2-5 years of work experience in a related job discipline.
--- Certifications:
---
Preferred Qualifications
Education:
Bachelor's degree in bioinformatics or a related field.
Master's degree in bioinformatics or a related field.
Technical Skills or Knowledge:
Prior experience related to the analysis of high-throughput sequencing data.
Hands-on experience with mapping, variant calling (SNV, CNV) and annotation.
Knowledge and demonstrated experience of the following languages: Perl/Python, PHP, MySQL, HTML, JavaScript, CSS, bash.
Proficient in version control with Git.
Proficient with modern workflow mangers (Nextflow).
Strong ability to administer/navigate Linux/Unix and OSX environments.
Creating and maintaining databases with MySQL.
Knowledge of various next generation sequencing data analysis tools such as BWA, GATK, samtools, Picard, snpEff, Annovar etc.
Familiarity with the following - NCBI databases, UCSC Genome Browser, HGMD, ClinVar, gnomAD, OMIM, HPO.
Developing, deploying and managing NGS data analysis pipelines.
HPC job submission, monitoring and debugging.
Background in genetics.
Skilled with CAP/CLIAprotocols/requirements.
Preferred Competencies
Coordinate multiple projects in a demanding research and diagnostic environment.
Strong communication and organizational skills.
Working Conditions
Office setting, on campus or remote.
Application Documents
Resume/CV (required)
Cover Letter (preferred)
Three References Contact Information (required)
When applying, the document(s) MUSTbe 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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