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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

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.
RNA-seq03:21

RNA-seq

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 microarray-based...
Sanger Sequencing01:57

Sanger Sequencing

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...
Maxam-Gilbert Sequencing01:05

Maxam-Gilbert Sequencing

In the same year as the discovery of the Sanger sequencing method, another group of scientists, Allan Maxam and Walter Gilbert, demonstrated their chemical-cleavage method for DNA sequencing. The Maxam-Gilbert method relies on using different chemicals that can cleave the DNA sequence at specific sites, the separation of resulting DNA fragments of variable size using electrophoresis, and deciphering the DNA sequence from the resulting gel bands.
Challenges of the Maxam-Gilbert Method
The...
Genomics02:02

Genomics

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...
Modern Molecular Taxonomy01:29

Modern Molecular Taxonomy

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: May 17, 2026

Next-generation Sequencing of 16S Ribosomal RNA Gene Amplicons
10:24

Next-generation Sequencing of 16S Ribosomal RNA Gene Amplicons

Published on: August 29, 2014

Next generation sequencing methodologies--an overview.

William O Pickrell1, Mark I Rees, Seo-Kyung Chung

  • 1Neurology Research and Molecular Neuroscience, Institute of Life Science, College of Medicine, Swansea University, Swansea, UK.

Advances in Protein Chemistry and Structural Biology
|October 11, 2012
PubMed
Summary
This summary is machine-generated.

Precise phenotyping and correct DNA sample submission are crucial for successful gene discovery using next-generation sequencing (NGS). Careful study design, like choosing a quad analysis, and understanding sequencing technology can significantly reduce variants for efficient genetic disorder research.

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Sequencing of mRNA from Whole Blood using Nanopore Sequencing

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Last Updated: May 17, 2026

Next-generation Sequencing of 16S Ribosomal RNA Gene Amplicons
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Next-generation Sequencing of 16S Ribosomal RNA Gene Amplicons

Published on: August 29, 2014

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

Published on: April 4, 2018

Sequencing of mRNA from Whole Blood using Nanopore Sequencing
11:26

Sequencing of mRNA from Whole Blood using Nanopore Sequencing

Published on: June 3, 2019

Area of Science:

  • Genetics and Genomics
  • Bioinformatics
  • Clinical Research

Background:

  • Gene discovery is vital for understanding human disorders.
  • Next-generation sequencing (NGS) has become a primary tool for gene discovery, aided by biostatistics and bioinformatics.
  • Effective gene discovery relies on robust experimental design and data analysis.

Purpose of the Study:

  • To highlight the importance of accurate phenotyping for successful NGS experiments.
  • To guide the selection of appropriate DNA sample submission strategies based on inheritance patterns.
  • To compare NGS platform technologies and discuss bioinformatic filtering approaches for variant reduction.

Main Methods:

  • Review of gene discovery strategies, emphasizing phenotyping and DNA sample submission.
  • Comparison of different study designs (trio, quad, cohort) for genetic analysis.
  • Evaluation of NGS platform technologies, including false call rates, coverage, and read depth.
  • Overview of bioinformatic filtering techniques for reducing large variant datasets.

Main Results:

  • High-quality phenotyping increases the likelihood of successful NGS experiments.
  • The choice of study design (e.g., quad) impacts DNA sample submission and analysis.
  • NGS platforms vary in performance; emerging technologies may address current limitations.
  • Bioinformatic filtering can effectively reduce millions of variants to a manageable number (e.g., ≤50).

Conclusions:

  • Optimizing phenotyping and experimental design are critical for efficient gene discovery via NGS.
  • Understanding NGS technology and employing robust bioinformatic analysis are essential for identifying disease-causing variants.
  • The study provides a framework for investigators to maximize the success of their gene discovery efforts.