Abstract Topic: 3. Acute myeloid leukemia - Biology & Translational Research
Background: Optical genome mapping (OGM) can detect all classes of SVs at high resolution, which adds significant insight to assessment of hematological malignancies. Although these novel SVs will help better describe genetic contributions to disease, it can take significant time to curate and classify variants with pathogenicity or of uncertain significance.
Aims: We have developed a streamlined workflow for use with Bionano VIA™ software for a comprehensive assessment of relevant SVs in a hematological malignancy genome.
Methods: First, by employing disease-specific decision trees for variants published in guidelines for those conditions, the software automatically flags Tier 1A variants detected according to ACMG/AMP/CGC criteria. Second, the overall genome complexity is assessed by observing chromosomal abnormalities detected by OGM. Large events (>5Mb) are counted, and complex genomes are assigned if there are more than 3 or 5 events, depending on the cancer type. Third, calls are further refined by filtering on a pan-cancer specific list to capture those variants that are then manually classified as Tier 1B or 2 by the analyst.
Results: Bionano VIA software is also able to accommodate multiple platforms simultaneously (e.g. NGS panels) to provide users a truly comprehensive view of genomic aberrations relevant to hematological malignancies.
Summary/Conclusion: This workflow is intended to streamline and simplify analysis and automate visualization, analysis, interpretation and reporting of samples, which are often extremely complex and require extensive manual curation.
Keywords: Hematological malignancy, Heme