Laboratory Genomics

GENOMES AND VARIANTS (MLS)

Learning Lab for Medical Laboratory Scientists

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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