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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
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Sanger Sequencing01:57

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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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Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Modern Molecular Taxonomy01:29

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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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Genetic Screens02:46

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
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Related Experiment Video

Updated: Jul 11, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Third-generation sequencing for genetic disease.

Xiaoting Ling1, Chenghan Wang1, Linlin Li1

  • 1Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Guangxi Medical University, Nanning 530021, China.

Clinica Chimica Acta; International Journal of Clinical Chemistry
|November 3, 2023
PubMed
Summary
This summary is machine-generated.

Third-generation sequencing (TGS) offers revolutionary genetic disease detection with long reads and precise variant analysis. Single-molecule real-time (SMRT) sequencing shows significant promise for improved molecular diagnostics.

Keywords:
DetectionGenetic diseaseGenomicsSingle-molecule real-time sequencingThird-generation sequencing

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Area of Science:

  • Genomics and Molecular Biology
  • Medical Diagnostics

Background:

  • Third-generation sequencing (TGS) technologies have emerged as a significant advancement in genetic disease detection.
  • TGS offers advantages over short-read sequencing, including longer read lengths and improved detection of complex structural variants.
  • Single-molecule real-time (SMRT) sequencing is a key TGS technology with rapid development in genetic applications.

Purpose of the Study:

  • To introduce the mechanism of SMRT sequencing (PacBio).
  • To review and compare different sequencing technologies.
  • To highlight the progress and clinical prospects of SMRT sequencing in genetic disease detection.

Main Methods:

  • Review of third-generation sequencing principles, focusing on SMRT sequencing.
  • Comparative analysis of advantages and disadvantages of various sequencing technologies.
  • Examination of published studies on SMRT sequencing applications in genetic disease diagnosis.

Main Results:

  • SMRT sequencing provides precise detection of complex and rare structural variants, complementing short-read sequencing limitations.
  • The technology demonstrates improved efficiency in disease diagnosis.
  • SMRT sequencing shows broad clinical application prospects for genetic diseases and potential for other molecular diagnostics.

Conclusions:

  • Third-generation sequencing, particularly SMRT sequencing, represents a major leap in genetic disease detection.
  • SMRT sequencing's capabilities in long-read and precise variant analysis position it as a vital tool for molecular diagnostics.
  • Continued innovation in SMRT technology promises expanded clinical utility beyond genetic diseases.