Bionano Genomics upgrades optical genome mapping pipeline

Bionano Genomics announced upgrades to its pipeline for analysis of optical genome mapping – OGM – data in its VIA software for applications in constitutional genetic disease. The latest analysis pipeline, Bionano Solve 3.8.1, enhances the sensitivity and specificity for structural variation – SV – detection from OGM data, which, when combined with copy number variant – CNV – analysis capabilities introduced in July 2023, further advance OGM’s variant detection. Together with the enhanced performance for SV and CNV calling, VIA software now enables visualization, interpretation and reporting of SVs and CNVs from OGM data. Researchers can construct a report template with desired sample and variant information that is relevant for a particular study. Reports can then be automatically populated for each sample during the course of a research study. VIA software contains a knowledge base, which consists of a vault of previously curated variant interpretations. VIA software enables the integration of multiple data types, including chromosomal microarray analysis and next-generation sequencing, which can be visualized, interpreted and reported alongside OGM.