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Frequently Asked Questions

What happens if a mutation is unrepaired?

Mutation. If unrepaired, such errors will change the sequence of the DNA bases and alter the genetic… The genome is composed of one to several long molecules of DNA, and mutation can occur potentially anywhere on these molecules at any time. The most serious changes take place in the functional units of DNA, the genes.

How do I find the best reference sequence for a novel mutation?

In addition to the use of the HGNC-approved gene symbol, one needs to find the most appropriate reference sequence for a novel mutation. The most appropriate reference sequence may be a coding DNA sequence based on full-length mRNA or a genomic DNA reference sequence.

Why do mutations occur in DNA?

Mutations in DNA occur for different reasons. For example, environmental factors, such as exposure to ultraviolet radiation or certain chemicals, can induce changes in the DNA sequence. Mutations can also occur because of hereditary factors. What are mutation hotspots?

What are the different types of mutations?

→ Types of mutations Types of mutations There are many different ways that DNA can be changed, resulting in different types of mutation. Here is a quick summary of a few of these: Substitution A substitution is a mutation that exchanges one base for another (i.e., a change in a single “chemical letter” such as switching an A to a G).


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