Bionano Optical Genome Mapping to Decipher Genomic Structure Variations in Acute Leukemias

Dr. Hongxing Liu and Dr. Bo Chen, Lu Daopei Institute of Hematology, Beijing, China presents their analysis with Saphyr of 14 acute leukemias and compares with results from karyotyping, multiplex PCR and RNA-seq. Saphyr identifies a total of 10 fusion genes including one never before identified fusion. Of the 10 identified by OGM, 4 were missed by PCR and 5 missed by karyotyping. They conclud that OGM is a powerful tool for SV detection because it has high throughput, high resolution and high accuracy, and unlike PCR-based assays for fusion detection it is unbiased and genome wide.