This technology has a plethora of applications, such as:​

• diagnosing and understanding complex diseases.
• whole-genome sequencing.
• analysis of epigenetic modifications.
• mitochondrial sequencing.
• transcriptome sequencing  understanding how altered expression of genetic variants affects an organism.
• Exome sequencing mutations in the exome are thought to contain up to 90% of mutations in the human genome, which leads to disease.
• DNA techniques have been used to identify and isolate genes responsible for certain diseases, and provide the correct copy of the defective gene known as ‘gene therapy’.