Somatic genetic variants

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Overview:

Scientists have known of somatic variants for many years, but recently there has been an explosion in the amount of data.

About Somatic genetic variants:

  • It is also known as somatic mutations which refer to alterations in the DNA sequence that occur in the cells of an individual’s body after conception.
  • Somatic genetic variants are important for a number of normal physiological processes. For example, the immune cells in our body, which produce antibodies, undergo an enormous amount of somatic changes to create diverse proteins.

 

Where do somatic mutations happen?

  • The change to a person’s DNA during a somatic mutation happens after fertilization in any cell of their body that isn't a sperm or egg cell (germ cells).
  • Cells continuously copy and replace themselves in humans.
  • If a mutation occurs, all cells that form from that affected cell will have that mutation in its DNA.
  • These mutations don’t pass from parents to their children (not hereditary) and happen sporadically or randomly.
  • Common somatic mutation conditions include: Skin cancer, Lung Cancer, Sturge-Weber and syndrome etc

 


Q1)  What is DNA?

Deoxyribonucleic acid is a molecule that carries the genetic instructions used in the development, functioning, growth, and reproduction of all living organisms and many viruses. It is often referred to as the "blueprint of life" because it contains the information necessary for an organism's structure and function.

Source: Somatic genetic variants: A genomic revolution hiding inside our cells