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Related Concept Videos

Genome Annotation and Assembly03:36

Genome Annotation and Assembly

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.
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.
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...
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...
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...
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...

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Updated: May 21, 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 and large genome assemblies.

Joseph Henson1, German Tischler, Zemin Ning

  • 1The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

Pharmacogenomics
|June 9, 2012
PubMed
Summary
This summary is machine-generated.

Next-generation sequencing (NGS) has transformed genome assembly, especially for large mammalian genomes. This review covers current NGS assembly methods, software, and future prospects for high-quality genome sequencing.

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Last Updated: May 21, 2026

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

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Published on: August 29, 2014

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
10:34

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Published on: March 15, 2019

Hybrid De Novo Genome Assembly for the Generation of Complete Genomes of Urinary Bacteria using Short- and Long-read Sequencing Technologies
12:08

Hybrid De Novo Genome Assembly for the Generation of Complete Genomes of Urinary Bacteria using Short- and Long-read Sequencing Technologies

Published on: August 20, 2021

Area of Science:

  • Genomics
  • Bioinformatics
  • Computational Biology

Background:

  • The advent of next-generation sequencing (NGS) has significantly reduced the cost and time for sequencing large genomes.
  • NGS technologies have introduced new complexities and challenges in the field of genome assembly.

Purpose of the Study:

  • To review the current state-of-the-art in de novo genome assembly, with a focus on mammalian-sized genomes.
  • To compare the strengths and weaknesses of various sequencing platforms and their impact on assembly.
  • To discuss current assembly approaches, available software, and future directions in genome assembly.

Main Methods:

  • Review of existing literature and current practices in de novo genome assembly.
  • Analysis of different next-generation sequencing platforms and their suitability for genome assembly.
  • Comparison of various genome assembly software packages based on performance and data requirements.

Main Results:

  • NGS platforms offer diverse capabilities, each with specific advantages and limitations for genome assembly.
  • The effectiveness of assembly is influenced by read length, sequencing depth, and genome complexity.
  • Short-read NGS data alone may be insufficient for high-quality assemblies of complex genomes, often requiring complementary long-read technologies.

Conclusions:

  • High-quality de novo genome assembly, particularly for mammalian genomes, is achievable with current NGS technologies, but challenges remain.
  • The choice of sequencing platform and assembly strategy is critical for successful genome reconstruction.
  • Future advancements in assembly algorithms and sequencing technologies will further improve the accuracy and efficiency of genome assembly.