The laboratory technique known as "next-generation sequencing" widely encompasses some different technologies that enable massively parallel sequencing technologies, and provide ultra-high throughput, scalability, and speed. Next-generation sequencing (NGS) has become a powerful tool to identify genetic variants and variable gene expression patterns that correlate with disease states and provide clinically-relevant mechanistic insights. Next-generation sequencing is mainly performed in three steps.

  1. Library preparation: using the random fragmentation of DNA and the following ligation with custom linkers library is prepared.
  2. Amplification: PCR and clonal amplification methods are used for the amplification of the library.
  3. Sequencing: there are different sequencing methods, and sequencing is done using any one of the methods.
    Next-generation sequencing enables a broad range of applications. It includes:
    • NGS allows the labs to sequence the whole genome quickly.
    • Allows the researchers to sequence the target regions deeply.
    • Helps to study the microbiome related to humans.
    • Identification of novel pathogens.
    • Study the rare somatic variants, tumor subclones, and more by sequencing cancer samples.
    • Epigenetic factors such as genome-wide DNA methylation and DNA protein interactions can be analyzed by the researchers in a lab by next-generation sequencing.
    • Novel RNA variants and splice sites can be discovered by the RNA sequencing method.
    • It has helped researchers to collect vast quantities of genomic sequenced data.
    • Understanding and diagnosis of complex diseases.
    • Understanding the expression of altered genetic variants and their effects on organisms.
    • 90% of the mutation in the human genome is thought to be caused by mutations in the exome, which leads to diseases. Thus, this technique helps in the sequencing and understanding of the exome patterns.
    • DNA next-generation sequencing is used for ‘gene therapy’ by identifying the isolated genes and providing the correct copy of that defective gene.
    • It also helps to study the genes that cause cancer and design the gene to kill cancer cells, also called the ‘suicide gene therapy’ method.
    • Revolutionize the diagnostic stage of personalized medicine.

Dr. Md. Monirul Islam
Senior Scientist