Copy Number Variant Analysis Improves Diagnostic Yield in a Diverse Pediatric Exome Sequencing Cohort
Highlight: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...
2-May-2025 10:55 AM EDT
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