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Related Concept Videos

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...
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.

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Related Experiment Video

Updated: Jun 1, 2026

Novel Sequence Discovery by Subtractive Genomics
09:40

Novel Sequence Discovery by Subtractive Genomics

Published on: January 25, 2019

Targeted assembly of short sequence reads.

René L Warren1, Robert A Holt

  • 1Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, British Columbia, Canada. rwarren@bcgsc.ca

Plos One
|May 19, 2011
PubMed
Summary

Targeted assembly using TASR efficiently analyzes next-generation sequencing (NGS) data for specific sequence variants. This streamlined approach avoids whole genome assembly, accelerating variant detection and analysis.

Area of Science:

  • Genomics
  • Bioinformatics

Background:

  • Next-generation sequencing (NGS) generates vast amounts of data, creating analysis bottlenecks.
  • Analyzing specific sequence variants often does not require full genome assembly or alignment.

Purpose of the Study:

  • To present TASR, a tool for rapid and accurate interrogation of large NGS datasets for specific sequence variants.
  • To demonstrate the utility of TASR in identifying genomic mutations, polymorphisms, fusions, and integration events.

Main Methods:

  • TASR uses localized assembly by searching for reads matching short words within user-provided target sequences.
  • Reads are assembled stringently to generate a consensus of the target and flanking sequences.
  • The presence of variants is indicated by successful assembly outcomes.

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3' End Sequencing Library Preparation with A-seq2
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3' End Sequencing Library Preparation with A-seq2

Published on: October 10, 2017

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

Related Experiment Videos

Last Updated: Jun 1, 2026

Novel Sequence Discovery by Subtractive Genomics
09:40

Novel Sequence Discovery by Subtractive Genomics

Published on: January 25, 2019

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

3' End Sequencing Library Preparation with A-seq2

Published on: October 10, 2017

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

Main Results:

  • TASR effectively interrogates large NGS datasets for the presence of specific sequence variants.
  • The tool can identify or confirm genomic mutations, polymorphisms, fusions, and integration events.
  • TASR can also identify unknown sequences flanking a given target.

Conclusions:

  • Targeted assembly is a powerful and efficient method for analyzing large NGS datasets for sequence variants.
  • TASR provides a fast, flexible, and user-friendly solution for targeted assembly.