Final answer:
Genotype calling in the human genome refers to determining an individual's specific genetic makeup at a particular location in the genome. It involves identifying the two alleles present at a given SNP site. This is important for studying genetic variations and their potential associations with diseases or other traits.
Step-by-step explanation:
In addition to SNP (variant) calling, genotype calling in the human genome refers to determining an individual's specific genetic makeup at a particular location in the genome. This involves identifying the two alleles present at a given SNP site.
For example, if a SNP site has a variation where some individuals have the nucleotide 'A' and others have 'G', genotype calling would determine if an individual has an 'A/A', 'A/G', or 'G/G' genotype at that SNP site.
Genotype calling is essential for studying genetic variations and their potential associations with diseases or other traits.