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molecular (polymorphism (SNPs single nucleotide polymorphism, copy number…
molecular
polymorphism
SNPs single nucleotide polymorphism
copy number variations
short tandem repeats
gene
susceptibility/complex gene
Mendelian/causative gene
disease
monogenic disease
complex disease
polymorphism
prevalance >1% in population
mutation
prevalance <1% in population
direct mutation analysis
RFLP restriction fragment length polymorphism
direct mutation screening
sequencing
mutation
germline mutation
take all samples
somatic mutation
take one sample