Title:  Senior Scientific Programmer

Summary

The Human Genome Sequencing Center (HGSC) provides a unique opportunity to gain experience working with high-throughput clinical genomic data in an academic research environment, with opportunities for publication, conference travel and international scientific collaboration. As a member of the NGSI Clinical Informatics team, you will directly contribute to the HGSC’s pioneering work in Mendelian genomics and multiple NIH-funded Precision Medicine initiatives. You will collaborate with teammates to develop software and pipelines to expand the types of variants detectable with our clinical sequencing pipelines as well as tools for tertiary analysis of variants, including clinical classification. This position requires a high-performing programmer with demonstrated exceptional communication, organization, and time-management skills to assist in building and operating these pipelines.

Job Duties

• Develop custom and apply existing bioinformatics software to complex genome analysis problems.
• Design, implement, test, debug, maintain and operate software pipelines for genome sequence analysis applications. 
• Evaluate the suitability of new software tools for our production pipeline.
• Advise on hardware and software decisions related to efficient application of implemented software.
• Provide technical guidance and training to other team members.

Minimum Qualifications

• Bachelor's degree in Management Information Systems, Computer Science, or a related field. Four years of related experience may substitute for degree requirement.
• Three years of relevant experience.

Preferred Qualifications

• Background in biology and/or a clinical lab with computational experience
• Strong understanding of software Engineering principles (software testing, architecture, refactoring, deployment)
• Experience with some of the following: 
  • Genetics / ACMG classification 
  • AWS / Cloud services including CloudFormation, batch, lambda, SNS, ECR, DynamoDB
  • CAP/CLIA Documentation
  • High Performance Compute Environment (e.g., moab, PBS)
  • NGS sequence analysis tools (e.g. BWA, Samtools, bedtools, Dragen)