Exploring the Different Types of Genetic Variation and Their Importance in Precision Medicine

How many types of Genetic Variation are there, and what are they?

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Genetic variation is the term given to the variations that are present in the DNA sequences of different individuals of the same species. Here are the different types of genetic variations:

1. Single Nucleotide Polymorphism (SNP): It is the most common type of genetic variation. SNPs occur when a single nucleotide in the DNA sequence is replaced by another nucleotide. This type of variation can affect the functioning of the gene in various ways, including protein synthesis, regulation of the gene, and splicing.

2. Insertions and Deletions (InDels): These are caused due to the insertion or deletion of one or more nucleotides in the DNA sequence, leading to a shift in the reading frame of the gene and sometimes leading to a non-functional protein.

3. Copy Number Variation (CNV): This variation arises due to changes in the number of copies of a specific DNA sequence in the genome. An increase or decrease in the number of copies can have a significant impact on gene expression.

4. Structural Variation (SV): Structural variations are larger genomic changes that involve a segment of DNA or rearrangement of chromosomal regions. This includes translocations, inversions, and duplications.

5. Repeat expansions: This variation arises due to the expansion of short tandem repeats in a genome. These are repeated DNA sequences that are adjacent to each other.

In summary, genetic variation plays a crucial role in the diversity of organisms and explains why certain diseases affect individuals differently. Understanding these different types of genetic variations is important for studying the genetic basis of complex diseases and in precision medicine.

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