This module is an introduction into the genome and the terminology used to describe different types of genetic variation. We show how the genome is encoded as a string of nucleotides along one of the strands. We introduce different types of common genetic variation such as SNPs and indels and discuss how they are composed as alleles. We clarify how the terms mutation and variant are used in relation to (and sometimes interchangeably with) SNPs and indels. Finally, we discuss how genetic variation is arranged on haplotypes and within chromosomes.


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