Exploring Patterns of Mosaicism in One Million People

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Description

Dr. Pineda will discuss patterns of mosaicism discovered through clinical deep sequencing of disease-related genes in one million individuals. 

 

Overview of Presentation

  • Recognize methodology to call mosaic variants. 
  • Recognize the prevalence of mosaic variants in clinical samples. 
  • Recognize the clinical implication of a mosaic variant in the context of the type of genetic test, age of the patient, and clinical indication. 

Read the AJHG Journal Paper here: “Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals”

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