P638: Detection of chromosomal mosaicism: The importance of karyotyping and FISH*

Finally, we developed an open-source software roadmap, including upgrades to the back-end installation, deployment, and data ingestion infrastructures.Results: To date, Codicem has been used to analyze ~6000 genomes across ~15 research projects since migration to hg38.A separate Codicem instance is maintained as part of a CAP/CLIA-validated clinical genome test and has been used to issue ~2000 interpreted genome reports.SV-enabled Codicem implementation is ongoing via agile software development.Improvements to the Codicem installation and deployment systems will support an open-source release to facilitate community use of the tool.Conclusion: Tertiary analysis of clinical GS data, which includes annotation, filtering, curation, and reporting of variants, is a complex, software-driven process.Small variant analysis in Codicem is an integral part of our research and clinical genomics programs, but opportunities exist for improvement, especially with the advent of lrGS and increased focus on structural variation.While some commercial tools provide similar functionality to Codicem, there are few open source, freely available applications; therefore, an open-source and SV-enabled release of Codicem may facilitate expanded research and clinical benefits of GS.