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- Variant identification and analysis
- Types of genetic variation studies
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Genotype or phenotype
Genetic differences or variation between individuals leads to differences in an individual’s phenotype, trait or risk of developing a disease. An individual’s phenotype is influenced both by their genotype and their environment (Figure 3).
A mendelian trait is one that is controlled by a single locus, for example a single base-pair substitution. In most cases, associations between genetic variants and phenotypes/traits are not this simple. These are called complex phenotypes and may be influenced by multiple variants in the genome along with environmental factors.