GENOMES AND VARIANTS (ADVANCED)
AACC 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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