Impact of Single Cell Sequencing Techniques on Medicine and Healthcare

In the last few decades, the healthcare facilities and the number of complex/chronic diseases have risen simultaneously. The researchers in the healthcare industry are putting their best efforts into accessing more information about human health at the genomic level to get to the complex roots of human health. Significant advancements have been made in genomic studies, and today, genes are being analyzed through various methods such as Sanger sequencing, single cell sequencing techniques capillary electrophoresis, and fragment analysis, next generation sequencing (NGS), etc.

Single cell sequencing is one such method of gene sequencing, under the umbrella of next generation sequencing techniques, which examines the sequence information from individual cells, providing a higher resolution of cellular differences and a better understanding of the function of an individual cell in the context of its microenvironment.

Advancements in bioanalytical technologies have helped in studying the dynamic activities in single cells, transcripts, and proteins. It empowers the ability to study cellular diversity and how this diversity is important to normal and impaired processes. Such studies and analyses of large and complex biological data of genetic codes are known as bioinformatics.

Single cell bioinformatics analysis is required for the analysis of deoxyribonucleic acid (DNA) and ribonucleic acid (RNA) materials at the single-cell level. The single-cell analysis aims to recognize the differences between cells. The analysis provides a new arena for bioinformatics, as bulk-cell data analysis methods may not be directly applicable to single-cell data.


With the available platforms and technology, the global single cell bioinformatics market is predicted to grow significantly. According to the BIS Research market report, the global single cell bioinformatics software and services market was estimated to be at $205.2 million in 2020, which is expected to grow with a CAGR of 10.89% and reach $634.8 million by 2031.

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Contribution of Single Cell Sequencing Techniques in Healthcare Research

Single cell sequencing techniques (SCS) are considered to be a powerful tool for studying rare cells and characterizing complex populations. Over the last few years, SCS methods for DNA and RNA analysis have had a significant impact on many diverse fields of biology, such as microbiology, neurobiology, development, tissue mosaicism, immunology, and cancer research. Few of such contributions to SCS technology are discussed below.

Human DNA
Human DNA
  1. Better understanding of genetic variations of cancer– SSC technology enables the analysis and understanding of the different cell types. It helps in providing detailed information on the clonal evolution as well as specific tumor characterization based on the DNA/RNA variations. It can include the study of metastatic clones, cancer stem cells, lineage analysis, as well as drug-resistant clones.

It is also used to gain a better and deeper understanding of complex neural tissues. Moreover, identifying the cell markers and cell types becomes easy with the help of single-cell sequencing. It helps in understanding the individual differences in biological pathways and developmental biology.

  1. Identification and analysis of rare cell types– SSC technology has proved to be quite efficient in identifying and analyzing rare cell types. While the commonly used techniques for this purpose are the NGS approach and the microarrays, they have certain limitations.

In the case of the rare cell types, single-cell RNA sequencing (scRNASeq) can easily characterize the hidden population and effectively measure the individual gene expression. This helps in overcoming the limitation of the other techniques related to cell sample size. Moreover, to preserve the samples effectively and enhance the outcomes, a DNA RNA shield can be used. Whether it is the abundant samples of different cell types or a rare sample, scRNASeq is the optimal solution.

  1. Detection of cancer stem cells- A complex disease like cancer has a different effect on everyone in terms of intensity, symptoms, and recovery. Cancer stem cells are a major source for the formation, drug resistance, and metastasis of the tumor. To ensure effective diagnosis and treatment for cancer-based on individual characteristics, the analysis of cancer stem cells is essential at the initial stages. The SSC analysis proves to be effective in such a situation.

It helps in the detection of genetic information, control of genes, as well as the difference between gene expressions in individual cells. Therefore, it enables the experts to understand the intra-tumoral diversity, analyze the cancer stem cells, and map the clone in the tumor. It provides crucial information for cancer research. Due to all these advantages, scRNA-Seq is increasingly being used in the research of lung cancer, breast cancer, renal cell cancer, hepatocellular carcinoma, etc.

  1. Helps in exploring the complex mechanisms- The single-cell sequencing technology helps in exploring the complex genetic mechanisms beyond the different cell types. It enables cell-by-cell molecular as well as cellular characterization. It also aids in exploring complex systems such as the immune system without any limitation. Therefore, this technology can be applied in various fields such as neurology, functional genomics, immunology, oncology, as well as stem cell biology.
  1. Study of gene regulatory networks and developmental trajectories– This technology helps in studying the molecular dynamics of the different cell types during the development stages.

This, in turn, enables the experts to understand the changes in cell fate as well as map the developmental trajectories. It can even be applied to determine the transcriptional state of the different individual muscle stem cells as well as the primary myoblasts.

Moreover, single-cell sequencing is also used to identify the different cellular states as well as the speed of the cell cycle.

With such vast benefits, SCS has emerged as an important technology that has contributed significantly to the advancement of medicine and healthcare.


The importance of single-cell sequencing techniques is now being realized by more and more scientific and academic researchers as well as by healthcare professionals. Due to this technology, it has now become possible to analyze samples at the single-cell level, which gives access to detailed information on disease subtypes, and better treatments.

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