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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.
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...
Assembly of Cytoskeletal Filaments01:18

Assembly of Cytoskeletal Filaments

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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...
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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.

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Related Experiment Video

Updated: Jun 25, 2026

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
08:35

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Published on: June 24, 2021

ABySS: a parallel assembler for short read sequence data.

Jared T Simpson1, Kim Wong, Shaun D Jackman

  • 1Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, British Columbia V5Z 4E6, Canada.

Genome Research
|March 3, 2009
PubMed
Summary
This summary is machine-generated.

A new parallelized sequence assembler, ABySS (Assembly By Short Sequences), efficiently handles large-scale DNA sequencing data. It successfully assembled 3.5 billion reads, identifying novel genetic variations in the human genome.

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3' End Sequencing Library Preparation with A-seq2
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Last Updated: Jun 25, 2026

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
08:35

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Published on: June 24, 2021

3' End Sequencing Library Preparation with A-seq2
12:01

3' End Sequencing Library Preparation with A-seq2

Published on: October 10, 2017

Novel Sequence Discovery by Subtractive Genomics
09:40

Novel Sequence Discovery by Subtractive Genomics

Published on: January 25, 2019

Area of Science:

  • Genomics
  • Bioinformatics

Background:

  • Massively parallel DNA sequencing generates vast datasets.
  • Existing de novo short read assembly algorithms struggle with large-scale data.

Purpose of the Study:

  • To develop a parallelized sequence assembler for efficient de novo assembly of large sequencing datasets.
  • To address the limitations of current algorithms in handling human genome-scale data.

Main Methods:

  • Development of ABySS (Assembly By Short Sequences), a parallelized sequence assembler.
  • Assembly of 3.5 billion paired-end reads from an African male human genome.

Main Results:

  • Generated approximately 2.76 million contigs (>=100 bp) with an N50 size of 1499 bp.
  • Assembled contigs represented 68% of the reference human genome.
  • Identified polymorphic and novel sequences, validated against alternate assemblies and primate genomes.

Conclusions:

  • ABySS demonstrates capability in assembling large-scale sequencing data.
  • The assembler facilitates the cataloging of natural genetic variation.
  • Identified novel sequences contribute to understanding human genomic diversity.