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Related Concept Videos

RNA-seq03:21

RNA-seq

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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. 
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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.
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DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
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Updated: Apr 11, 2026

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
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Denoising DNA deep sequencing data-high-throughput sequencing errors and their correction.

David Laehnemann, Arndt Borkhardt, Alice Carolyn McHardy

    Briefings in Bioinformatics
    |May 31, 2015
    PubMed
    Summary

    Understanding sequencing errors is crucial for accurate genetic analysis. This study surveys error profiles across six major platforms, aiding in distinguishing true variations from technical artifacts.

    Keywords:
    biaserror correctionerror modelerror profilehigh-throughput sequencingnext-generation sequencing

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    Area of Science:

    • Genomics
    • Bioinformatics

    Background:

    • High-throughput sequencing platforms generate errors that can be mistaken for true genetic variation.
    • Accurate identification of genetic variations is vital for numerous downstream analyses.

    Purpose of the Study:

    • To characterize error profiles of six prominent high-throughput sequencing platforms.
    • To provide guidance on selecting appropriate error correction tools based on data properties.

    Main Methods:

    • Surveyed error profiles of 454 pyrosequencing, Complete Genomics, Illumina, Ion Torrent, Pacific Biosciences, and Oxford Nanopore sequencing.
    • Reviewed various error removal programs, their models, and statistical techniques.

    Main Results:

    • Identified distinct random and systematic error profiles for each surveyed sequencing platform.
    • Highlighted the assumptions and data types relevant to different error correction tools.

    Conclusions:

    • Knowledge of platform-specific error profiles is essential for distinguishing true genetic variation from technical artifacts.
    • Future development of error correction and variant calling tools can benefit from integrating existing knowledge and approaches.