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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

92.8K
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....
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Genomics02:02

Genomics

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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...
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RNA-seq03:21

RNA-seq

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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...
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Sanger Sequencing01:57

Sanger Sequencing

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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...
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Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

6.2K
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...
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DNA Microarrays02:34

DNA Microarrays

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Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
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Related Experiment Video

Updated: Sep 18, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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From DNA to Big Data: NGS Technologies and Their Applications.

Reshmi Ramakrishnan1, Ashitha Washington2, S Suveena1

  • 1GENEFiTHUB, Ernakulam, Kochi, Kerala, India.

Methods in Molecular Biology (Clifton, N.J.)
|June 24, 2025
PubMed
Summary

Next-Generation Sequencing (NGS) has revolutionized healthcare research, driving advancements in fields from oncology to space biology. Efficient big data technologies are crucial for managing and analyzing the increasing volume and complexity of NGS data.

Keywords:
Big-data biologyComplex dataNGSNGS pipelineNGS technologiesNext-generation sequencing

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Area of Science:

  • Genomics and Bioinformatics
  • Biotechnology
  • Computational Biology

Background:

  • The last decade saw a significant increase in Next-Generation Sequencing (NGS) data due to technological and computational advances.
  • NGS, alongside Artificial Intelligence (AI), is transforming healthcare research and various scientific disciplines.

Purpose of the Study:

  • To provide a comprehensive overview of NGS technologies and their applications.
  • To discuss the impact of NGS on the COVID-19 pandemic and other fields.
  • To explore the challenges and future directions in NGS data analysis.

Main Methods:

  • Historical perspective on sequencing and evolution of NGS technologies.
  • Outline of various NGS methods, workflows, and key analysis stages.
  • Discussion of data analysis tools and techniques for genomics, transcriptomics, and microbiome studies.

Main Results:

  • NGS has diverse applications in oncology, agriculture, archaeogenetics, and space biology.
  • The surge in NGS data presents challenges in management and analysis.
  • Clinical applications of NGS data are expanding.

Conclusions:

  • There is an urgent need for advanced big data technologies and tools to manage and analyze complex NGS datasets.
  • Efficient data analysis is critical for deriving actionable insights from genomic, transcriptomic, and microbiome studies.
  • NGS continues to evolve, promising further breakthroughs in scientific research and healthcare.