An Overview of Bioinformatics and its Combination with Next-Generation Sequencing

14 Jun 2022

Bioinformatics is an integrative field that creates methods and software tools for analyzing biological data, particularly big and complicated data sets.

Bioinformatics is an interdisciplinary discipline of research that analyses and interprets biological data by combining biology, chemistry, physics, information technology, information engineering, arithmetic, and statistics.

Bioinformatics has been utilized for mathematical and statistical in silico assessments of biological questions. The biological data must be merged to generate a full picture of these activities to examine how normal cellular functions are disrupted in different disease states.

As a result, bioinformatics has progressed to the point where the most important task currently is the analysis and evaluation of diverse forms of data.

Nucleotide and amino acid sequences, protein domains, and protein structures are all included in bioinformatics. Computational biology is the term that describes the process of analyzing and interpreting data.

Bioinformatics' main purpose is to improve our awareness of biological processes. Its focus on creating and deploying computationally expensive ways to attain this goal distinguishes it from other approaches.

The market for single-cell bioinformatics software and services market is still in its early stages.

The global single-cell bioinformatics software and services market was estimated to be at $205.2 million in 2020, as per BIS Research, and is expected to grow with a CAGR of 10.89% and reach $634.8 million by 2031.

Software Tools for Bioinformatics 

Bioinformatics software tools span from simple command-line tools to more complicated graphical programs and independent web services offered by various bioinformatics enterprises and public institutes.

Since the 1980s, there have been numerous free and open software applications that have grown in popularity. The need for new algorithms to analyze emerging forms of biological readouts, the opportunity for unique in-silico experiments, and publicly accessible open code bases have all helped to provide chances for all research organizations.

Regardless of funding arrangements, this benefits both bioinformatics and the amount of open-source software available. Open-source tools are frequently used as idea incubators or community-supported plug-ins in commercial software.

Single-Cell Bioinformatics

Advances in bioanalytical technology have aided in the study of substances in single cells, transcripts, and proteins, allowing researchers to investigate cellular heterogeneity and how it affects normal and abnormal processes.

Owing to amplification biases created by sparse amounts of starting DNA/RNA material, single-cell bioinformatics evaluation is essential for normalization.

The goal of the single-cell analysis is to identify changes between cells. As bulk-cell data processing approaches may not be directly relevant to single-cell data, the study opens new territory for bioinformatics.

According to a biostatistician at the Johns Hopkins Bloomberg School of Public Health, the main issue is that "single-cell data is substantially noisier than bulk RNA-sequencing." Although bioinformaticians have created advanced techniques to eliminate noise, given the complexity of the research, further obstacles are expected to arise.

Therefore, data analysis services are becoming more popular, as large organizations with educated single-cell bioinformaticians can extract raw information from researchers and educators and transform it into files that are easier to understand and deconstruct for biologists.

Along with biotech heavyweights like Illumina, Inc., Takara Bio Inc., and BD, there has been a growing amount of analytical software startups like 1CellBio and Dolomite Bio. Some, such as Mission Bio, provide free software along with their equipment.

Others in the global single-cell bioinformatics software and services market, such as Dolomite Bio and Fluidigm Corporation, focus on single-cell services solely, whereas Illumina offers both single-cell software and services.


Cell Sequencing – NGS and scRNA

Rapid advancements in next-generation sequencing (NGS) technologies have yielded numerous vital insights into intricate biological systems in recent years, spanning from cancer genomics to varied microbial ecosystems.

NGS-based genomes, transcriptomics, and epigenomics technologies are increasingly focusing on the characterization of single cells.

In comparison to existing profiling methods that examine bulk populations, these single-cell assessments will enable researchers to unearth new and potentially surprising biological discoveries.

For example, single-cell RNA sequencing (scRNA-seq) can reveal complicated and rare cell populations, find regulatory links between genes, and trace the evolution of different cell lineages.

Combining NGS with Bioinformatics

NGS paired with bioinformatics has been effectively used in a wide range of analyses for infectious disease studies with public health implications.

For example, NGS and bioinformatics strategies have been used to locate outbreaks, track transmissions, explore epidemic dynamics, identify etiological disease agents, and uncover novel human diseases.


Despite its many advantages, high-quality NGS and bioinformatics in research and community health facilities can be difficult to deploy.

The selection of a sequencing platform and strategy, bioinformatics methodologies, availability of sufficient compute and information technology facilities, and attracting and retaining employees with specific skills and expertise in the field are just a few of the hurdles.


Request a Sample


Twitter Feeds