About this Class

Dear Colleagues,
  
Optical Genome Maps (OGM) provide scaffolding information for large DNA molecules. In this talk, we describe the use of this technology for detecting structural variants and chaining them together to elucidate somatic complex structural variation in cancer.
 
We focus specifically on two mechanisms of focal Copy Number Amplifications (fCNA) in cancer: extrachromosomal DNA (ecDNA) and Breakage Fusion Bridge cycles (BFB).
 
We describe:
•    how our AmpliconReconstructor (AR) method integrates OGM with next-generation sequencing (NGS) to resolve ecDNA at single-nucleotide resolution.
•    a novel algorithm, OM2BFB, that detects and reconstructs BFB amplifications using optical genome maps.
•    the method used to predict 371 BFB events using whole genome sequences from 2,557 primary tumors and cancer lines to compare/contrast their properties against ecDNA.