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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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Genomics02:02

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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 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 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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RNA-seq03:21

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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. 
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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...
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Updated: Jan 12, 2026

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Next generation DNA sequencing data analysis and its application in clinical genomics.

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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.