Basic Concepts

Rare variants:

Rare variants are defined as single nucleotide polymorphisms(SNPs) with a minor allele frequency (MAF) of less than 0.01. They often have larger phenotypic effects in comparison to low-frequency (less common) (0.01 < MAF < 0.05) or common (MAF > 0.05) disease-associated SNPs.

Etiology (/ˌiːtiˈɒlədʒi/; alternatively spelled aetiology or ætiology,病原学)

Etiology is the study of the causes, origins, or reasons behind the way that things are, or the way they function, or it can refer to the causes themselves.