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genome variation & disease (types of genetic variation ("…
genome variation & disease
mechanisms
mutation
DNA replication errors
recombination errors (meiosis)
segregation errors
exogenous causes
random/selective mating
environment?
types of genetic variation
SNPs
polymorphisms
"mutations"
intragenic
frameshift
nonsense
missense
splice site
chromosomal
aneuploidy
polyploidy
duplications/deletions
translocations
inversions
variant
the basics
definitions
germline vs somatic
clinical consequences
LOF
GOF
regulation of gene expression