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Genetics

Snapshot: What is a De Novo Mutation?

For healthy function, our body performs many essential cellular processes mediated by the molecules created within us. This construction is based on a molecule called DNA, which acts as an instruction manual by carrying all the genetic information within our body. Every person’s genome, or collection of DNA, is completely Read More…

Snapshot: What Does Incomplete Penetrance Mean?

Incomplete penetrance is a characteristic of a wide range of genetic diseases, including hereditary forms of neurodegenerative disease, heart disease, and cancer. In short, it means that individuals carrying a disease-causing mutation may not necessarily develop disease symptoms. “Penetrance” refers to the proportion of individuals carrying the disease-causing mutation that Read More…

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