Bionano Genomics, Inc, announced significant 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 leadership in variant detection. Together with the enhanced performance for SV and CNV calling, VIA software now enables the most comprehensive visualization, interpretation and reporting of SVs and CNVs from OGM data in constitutional genetic disease research.
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Features of the VIA software that apply to constitutional genetic disease research include:
- Automated analysis and interpretation
- Calculation of CNV pathogenicity scores according to the American College of Medical Genetics (ACMG) 2019 guidelines for CNV interpretation and reporting
- Inheritance analysis of proband and parental samples
- Comparison of variant calls to databases including internal databases, OMIM, ClinGen and the Database of Genomic Variants (DGV) for pre-classification of variants
- Phenotype-based variant prioritization & filtering using the Human Phenotype Ontology (HPO) database to score significance of associated phenotype to detected variants and create panels of likely genetic drivers
- Custom Reporting
- 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
- Knowledge Base
- VIA software contains a knowledge base, which consists of a vault of previously curated variant interpretations
- New samples can be automatically compared to previous interpretations in the knowledge base to find similar examples and expedite the analysis and interpretation time
- Integration of Additional Data Types
- VIA software enables the integration of multiple data types, including chromosomal microarray analysis (CMA) and next-generation sequencing (NGS), which can be visualized, interpreted and reported alongside OGM
“These steps forward for VIA software and the Solve pipeline are significant advancements for any researcher working with OGM data, but they are particularly important for those doing constitutional genetic research. Our VIA release in July 2023 addressed the needs of researchers studying hematological malignancies. The progress announced helps the constitutional genetic disease research community go beyond the capabilities of Bionano Access™ software in a way that significantly improves their ability to visualize, interpret and report results in a streamlined process that runs faster than ever. We believe these improvements will empower researchers to tackle even larger and more complex projects resulting in more and more use of OGM data,” commented Erik Holmlin, PhD, president and chief executive officer of Bionano.
SOURCE: GlobeNewswire