Genetic testing to identify a disease

Question

[muvinika]

To identify a disease why mostly protein sequences are taken in genetic testing rather than gene sequences?

Answer 1

[Devon Ryan]

It's not that protein sequence is taken, but rather than coding regions within genes receive the most attention. This is because they're the most likely regions to harbour deleterious mutations. Non-coding causative mutations do occur, but are less likely (and MUCH harder to predict).