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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...
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.
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.

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Related Experiment Video

Updated: May 18, 2026

A Practical Guide to Phylogenetics for Nonexperts
12:00

A Practical Guide to Phylogenetics for Nonexperts

Published on: February 5, 2014

Mapping single molecule sequencing reads using basic local alignment with successive refinement (BLASR): application

Mark J Chaisson1, Glenn Tesler

  • 1Department of Mathematics, University of California, San Diego, 9500 Gilman Dr, CA, La Jolla, USA.

BMC Bioinformatics
|September 20, 2012
PubMed
Summary
This summary is machine-generated.

We developed BLASR, a fast and accurate method for mapping long DNA reads from Single Molecule Sequencing (SMS). This approach effectively handles the higher error rates in SMS data, improving genomic analysis.

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Area of Science:

  • Genomics
  • Bioinformatics
  • Molecular Biology

Background:

  • High-throughput DNA sequencing utilizes Single Molecule Sequencing (SMS) to generate reads up to tens of kilobases long.
  • Existing alignment methods struggle with the efficiency and accuracy required for SMS data due to its high error rate.

Purpose of the Study:

  • To introduce BLASR (Basic Local Alignment with Successive Refinement), an efficient and sensitive alignment tool for SMS reads.
  • To address the challenges posed by long reads and high error rates in SMS data.

Main Methods:

  • BLASR employs a novel algorithm for mapping long DNA sequences.
  • The method is designed to handle insertion and deletion errors prevalent in SMS reads.
  • A combinatorial model of sequencing error is presented to explain the method's effectiveness.

Main Results:

  • BLASR demonstrates high accuracy and speed in mapping SMS reads.
  • Benchmarking with simulated and real bacterial sequencing data validates the method's performance.
  • The combinatorial error model accurately predicts the observed mapping accuracy.

Conclusions:

  • It is feasible to achieve high-accuracy and high-speed mapping of Single Molecule Sequencing reads.
  • The developed combinatorial model provides insights into SMS read mapability.
  • BLASR offers a robust solution for analyzing long-read sequencing data.