From Microscope to Molecule: Chromosome Abnormality Testing in the Era of NGS

Course overview

This presentation will provide an overview of genomic assays currently used in clinical laboratories to detect large genomic abnormalities associated with human disease. The discussion will encompass karyotype analysis, fluorescence in situ hybridization (FISH), chromosomal microarray analysis, copy number profiling from next generation sequencing (NGS) data, optical genome mapping (OGM), and fusion detection from transcriptome sequencing (RNA sequencing [RNA-Seq]). Experience from the Center for Personalized Medicine at Children's Hospital Los Angeles will be highlighted to illustrate practical applications of these technologies. The presentation will compare the advantages and limitations of each assay and outline the key principles guiding the selection of the optimal testing approach for different clinical scenarios and laboratory settings. After this presentation, participants will be able to: 1) Describe the important role of large genomic abnormalities (copy number variants and balanced structural rearrangements) in pathogenesis of constitutional genetic disorders and pediatric cancers 2) Discuss advantages, limitations and clinical applications of different assays for detection of large genomic abnormalities including karyotyping, FISH, chromosomal microarray analysis, copy number profiling from NGS data, OGM, and fusion detection from transcriptome sequencing (RNA-Seq) 3) Review principles guiding selection of optimal assays for different clinical indications and laboratory settings