Introduction to Population

Genetics
 A quick revisit on genetic terms

allele Genotype
paternal eg. Aa

maternal

Allele: A OR a (paternal /maternal)

Genotype:
Human genome: ~ 3.2 billions bp a pair of homologous allele (ex AA, Aa, aa)

https://biology.stackexchange.com/questions/58449/interpretation-of-picture-of-human-chromosomes
Terms on population genetics

 Single Nucleotide Variation (SNV)  Biallelic SNP

 Variation in 1 base pair  SNP with 2 allele variations in the
 Single Nucleotide Polymorphism (SNP) population (majority)
 > 1% in the population

 Rare variant
 < 1% in the population

 Minor Allele Frequency

 Frequency of the smallest allele
MAF: blue allele / total = 6/20 = 0.3
 Relationship between allele frequency and effect size

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