What methods of human genetics can be used to detect gene mutations? Chromosomal and genomic mutations?

To identify gene mutations, biochemical methods, as well as sequencing, are used primarily. The cytogenetic method is widely used to identify chromosomal and genomic mutations. In addition, mutations in which there is a change in papillary skin patterns, for example, trisomy on the 21st chromosome (the cause of the development of Down syndrome), can be detected using the dermatoglyphic method.

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