The molecular diagnostic laboratory in the Department of Human Genetics at the University of Chicago is focused on the development and implementation of molecular genetic tests for rare orphan genetic disorders.  We are seeking a bioinformatics programmer to consult with our Sr. bioinformatics programmer to maintain and develop essential lab applications and provide bioinformatic support for next generation sequencing-based clinical testing.


The candidate will be expected to provide bioinformatic support for NGS-based clinical testing in the DNA diagnostic laboratory of the Department of Human Genetics. 
This includes maintenance and improvement of existing data analysis pipelines, and support for the development of new NGS-based clinical tests including custom gene panels and exome sequencing. The candidate will also be expected to maintain, evaluate and improve relational database systems and web-based interfaces to store, access and review data from the analysis pipelines. The candidate will work to help with the expansion of array-CGH technology in the diagnostic lab with regards to data organization, analysis and array design. 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). Other duties include: 

  • Communicating and working with external infrastructure and software providers regarding specific laboratory needs.
  • Troubleshooting software and hardware related issues with lab servers and desktops. 
  • Writing documentation for existing programs.
  • Maintaining accurate records of all activities carried out in conjunction with different projects.
  •  Attending lab meetings and reading current journal articles pertaining to relevant projects.


  • Master’s degree in Bioinformatics or other related sciences. One to two years of related work experience preferred.
  • Strong ability to administer/navigate Linux/Unix and OSX environments. 
  • Experience in using HPC clusters for data analysis preferred. 
  • Knowledge and demonstrated experience of the following languages is required: Perl, PHP5, SQL, HTML, JavaScript, CSS, BASH, awk, sed. 
  • Experience in version control with git. 
  • Experience with creating and maintaining databases with MySQL. 
  • Experience in analyzing next generation sequencing data preferred.
  • Background in genetics preferred. 
  • Experience in general hardware and software related troubleshooting on windows machines desired.  


To apply for the position, please email your resume to

Viswateja Nelakuditi –

The University of Chicago is an Affirmative Action / Equal Opportunity Employer.