Related Experiment Video
Updated: Jan 12, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
34.6K
Next generation DNA sequencing data analysis and its application in clinical genomics
Abhijit Beura1, Gowrang Kasaba Manjunath1, Shweta Mahalingam1
1Manipal Academy of Higher Education (MAHE), Manipal, Karnataka, India; Institute of Bioinformatics, International Technology Park, Bangalore, Karnataka, India.
Pathology, Research and Practice
|November 2, 2025
Summary
Next-generation sequencing (NGS) revolutionizes genomics for cancer research and rare disease diagnosis. This technology identifies genetic variants crucial for developing targeted therapies and advancing personalized medicine.
Area of Science:
- Genomics
- Molecular Biology
- Bioinformatics
Background:
- Next-generation sequencing (NGS) has become a cornerstone of modern genomics.
- It enables rapid, high-throughput analysis of DNA and RNA.
- NGS drives progress in cancer research, rare disease diagnosis, and personalized medicine.
Purpose of the Study:
- To review the diverse applications of Next-generation sequencing (NGS).
- To highlight the role of NGS in identifying genetic variants for targeted therapies.
- To discuss the workflow, tools, and ethical considerations of NGS.
Main Methods:
- Review of current literature on Next-generation sequencing (NGS) applications.
- Discussion of the NGS workflow, including data quality control, alignment, and variant calling.
- Exploration of cloud-based platforms and essential databases (e.g., dbSNP, COSMIC, TCGA) for data interpretation.
Main Results:
- NGS significantly aids in identifying genetic variants that inform targeted therapy development.
- The NGS workflow is supported by various open-source and commercial tools.
- Cloud platforms enhance the management and processing of large NGS datasets.
Conclusions:
- NGS is pivotal for advancing human health and understanding disease mechanisms.
- Ethical considerations, including data privacy and informed consent, are critical.
- Future directions include integrating multi-omics and single-cell sequencing for deeper biological insights.
More Related Videos
13:24Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
Published on: April 11, 2016
12.2K
11:02Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013
19.9K
Related Concept Videos
03:00Next-generation Sequencing
97.7K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
97.7K
02:02Genomics
39.6K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
39.6K
02:54Evolutionary Relationships through Genome Comparisons
6.8K
Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
6.8K
01:57Sanger Sequencing
773.0K
DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
773.0K
03:21RNA-seq
11.7K
RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases.
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
11.7K
01:29Modern Molecular Taxonomy
574
Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...
574