A Look at the Technology Used in Next Generation Sequencing

The newest sequencing machines are revolutionizing the way we study disease.

Next-generation sequencing technologies, like the Illumina HiSeq X Ten and Pacific Biosciences SMRT technology, can sequence DNA (or RNA) at rates 10 to 100 times faster and more cheaply than conventional methods.


Researchers can now pivot from studying a single gene to analyzing every gene in a cell or organism with these technologies. This helps us understand how genes interact within cells and what roles they play at different stages of development.


Next-generation sequencing is an advancement in DNA analysis developed to help identify cancer types and inherited health risks. This report uses the latest technology to identify genetic mutations present in a person’s DNA. The report can then help determine if a person has a hereditary disease or has an increased risk for cancer.


When next-generation sequencing is used to identify hereditary health risks, the report will provide information on specific DNA mutations passed from parent to child. This can be compared to the DNA of healthy family members to determine any abnormalities. 


Next-generation sequencing uses the latest technology to make it easier to identify mutations in DNA. Here are some of the technology pieces used in next-generation sequencing:


Droplet Digital Polymerase Chain Reaction (ddPCR)


This method provides increased sensitivity using a microfluidic droplet platform. Droplets with reagents and enzymes are formed to amplify DNA through polymerase chain reaction (PCR). One of the significant advantages of ddPCR is that it can be used for any DNA targets, which previously had to use PCR.


Microfluidic Chips


These chips are formed with a microfluidic system consisting of hydrophilic polymer channels with polydimethylsiloxane (PDMS). A bead is formed inside the channel so that PCR can amplify DNA. These chips are used to provide digital droplet PCR (ddPCR). Once gpII has amplified its DNA, it is transferred to a microarray chip. The DNA is then sequenced, and the sequence results are sent to a computer where it is read.


Semiconductor-Based Microarrays (SMM)


This technology is used for DNA and RNA sequencing. These microarrays consist of chips that are made from semiconductor materials. The DNA molecules are hybridized to the chip with complementary sequences. Then the chip is washed, exposed to a laser, then incubated with a fluorescent substrate that binds to nitrophenolate molecules (NP). This allows all DNA sequences, except for double-stranded regions, to be read on a computer.




This is another method used for DNA sequencing. It is most commonly used in microbial identification. The DNA solution is loaded into a pyrosequencer, where it passes through a series of cycles containing magnesium and manganese ions. This allows DNA to be sequenced.


The advancement of next-generation sequencing is a significant improvement over current genetic testing. It has made DNA sequencing cheaper and faster, essential for genetic research because it can reduce the time necessary to identify dangerous mutations. Next-generation sequencing is used to analyze 3 billion base pairs of DNA sequences at once, which can speed up locating mutations. Next-generation sequencing has made genetic testing more accessible, and people can now test themselves at home.