Lead Bioinformatician; cfDNA Algorithms and Pipelines

Lead Bioinformatician specializing in developing algorithms for cfDNA-based diagnostic assays supporting Women’s and Organ health. Primary objective s involve designing, benchmarking, and deploying computational methods to accurately detect variants (SNVs, Indels, CNVs, SVs) in challenging sequencing contexts, such as low-fraction samples. Responsibilities include providing genomics insights for assay and panel development, strategizing caller creation and extension, troubleshooting complex production escalations, and collaborating cross-functionally with Variant Management, Reporting, and Laboratory Operations to ensure data quality and system integration.

The role emphasizes defining scientific and technical standards for assay analysis, including AI-assisted investigations.

Bachelor’s degree in Bioinformatics, Computational Biology, Human Genetics, or related field; 4+ years’ experience analyzing short-read sequencing data in regulated or production-adjacent settings; proven contributions to sequencing assay workflows; proficiency in Python; experience developing or benchmarking bioinformatics methods for difficult regions; and familiarity with human genetics and variant spectrum considerations.

Focus on cfDNA testing for reproductive, prenatal, and organ health indications, with applications in diagnostics and screening. Emphasis on algorithmic development for complex variant detection, quality assurance, and production readiness in a high‑complexity, regulated laboratory environment. The position is remote within the USA, with compensation ranging from $130,900 to $163,600 based on experience.