Copy Number Variant Analysis Improves Diagnostic Yield in a Diverse Pediatric Exome Sequencing Cohort
Children's Hospital Los AngelesHighlight:Exome sequencing (ES) is commonly used to diagnose Mendelian disorders, which occur when pathogenic variant(s) in a gene are either inherited from one or both parents or are de novo. Examples of such disorders include cystic fibrosis and sickle cell anemia. However, ES is not the first choice for detecting copy number variants (CNVs), which are typically deletions or duplications of DNA segments.