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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

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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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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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Applications of Molecular Taxonomy01:20

Applications of Molecular Taxonomy

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Molecular taxonomy has revolutionized the understanding and classification of bacteria, providing precise insights into their diversity, evolutionary relationships, and ecological roles. By utilizing molecular techniques such as DNA sequencing and fingerprinting, researchers have made significant strides in various fields related to bacterial studies.Resolving Taxonomic AmbiguitiesMolecular taxonomy has been instrumental in distinguishing closely related bacterial species initially thought to...
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Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

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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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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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Genome Annotation and Assembly03:36

Genome Annotation and Assembly

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The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
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Updated: May 4, 2026

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
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Transformative Applications and Innovations in Next-Generation Sequencing Data Analysis.

Abhijit Beura1,2, Tikam Chand Dakal3, Mangesh Sudhakar Rajguru1,2

  • 1Manipal Academy of Higher Education (MAHE), Manipal, Karnataka, India.

Journal of Applied Genetics
|May 2, 2026
PubMed
Summary
This summary is machine-generated.

Next-generation sequencing (NGS) transforms genomics with high-throughput analysis for disease research and precision medicine. Challenges in data handling and ethics are being addressed by AI and collaboration for better healthcare.

Keywords:
Artificial intelligenceBioinformaticsClinical translationEthical challengesGenomicsLong-read sequencingMulti-omicsNext-generation sequencingPrecision medicineSingle-cell sequencing

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Area of Science:

  • Genomics and Bioinformatics
  • Molecular Biology
  • Computational Biology

Background:

  • Next-generation sequencing (NGS) offers rapid, cost-effective genomic, transcriptomic, and epigenomic analysis.
  • NGS applications are crucial in cancer genomics, infectious diseases, rare disease diagnostics, and precision medicine.
  • Advanced NGS methods like single-cell and long-read sequencing provide deeper insights into cellular and genomic complexity.

Purpose of the Study:

  • To review the revolutionary impact and applications of next-generation sequencing (NGS) in biological research and clinical practice.
  • To highlight the advancements and expanding scope of NGS technologies.
  • To discuss the challenges and future directions of NGS in precision medicine.

Main Methods:

  • Review of current literature on next-generation sequencing technologies and applications.
  • Analysis of the benefits and limitations of various NGS approaches.
  • Exploration of emerging trends and future prospects, including AI integration.

Main Results:

  • NGS enables comprehensive genetic variant detection and functional analysis across diverse research and clinical fields.
  • Innovations in NGS have improved understanding of cellular heterogeneity and complex biological systems.
  • NGS facilitates biomarker discovery and identification of actionable mutations for personalized medicine.

Conclusions:

  • NGS is a cornerstone of precision medicine, driving individualized treatment strategies and healthcare improvements.
  • Addressing challenges in data management, error rates, and ethical considerations is vital for maximizing NGS utility.
  • The integration of AI, machine learning, and automation will further enhance NGS accuracy, scalability, and clinical impact.