Laboratory Genomics

GENOMES AND VARIANTS (ADVANCED)

Learning Lab Advanced

Author information
Avni Santani, PhD, FACMG
Christine Chung, MD
Drs Santani and Chung disclosed no conflict of interest

Learning objectives:

  • Understand basic definitions
  • Describe basics of mitochondrial genetics
  • Describe codon
  • Identify types of variants
  • Identify types of variants based on the functional consequence
  • Describe basics of HGVS nomenclature
  • Identify clinical implications of variants in common genetic disorders
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