Bioinformatics Scientist II

Develop and validate bioinformatics frameworks and pipelines to support clinical diagnostic tests in pediatric genomics. Collaborate with laboratory directors, analysts, genetic counselors, and wet bench team to improve pipelines and tools for accurate, timely diagnostic testing and to support clinical research and new test development. Responsibilities include CI/CD development of bioinformatics pipelines, routine code reviews, analysis of high- complexity genomics data (SNV, CNV, structural variation, RNAseq), machine learning/data modeling of genomic data, integration with resources like UCSC Genome Browser, gnomAD, ClinVar, and ACMG, and presenting results for multi-omics-based tests. Strong Python and UNIX skills required; familiarity with cloud environments and pipeline/workflow frameworks (WDL/CWL/SnakeMake/NextFlow) preferred. The role emphasizes collaboration, publication and scientific communication, and contributing to manuscript and grant proposals. COVID-19 vaccination is required for onsite work. EEO/VEVRAA. Salary range: $98,820 - $126,000 annual.