Genetics Clinical Grand Rounds: "Identification of Structural Variants Using Next-Generation Sequencing Data for Rare Disease Diagnosis"
1 Review the methods of structural variant detection in clinical genetic testing
2 Learn how and what types of structural variants can be detected using sequencing methods
3 Understand the limitations of structural variant calling and how it can be improved
Mayo ClinicLauren Choate, PhDLaboratory Genetics and Genomics Fellow