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Genome Copying Errors

Genome Copying Errors

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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Proofreading

Synthesis of new DNA molecules is carried out by the enzyme DNA polymerase, which adds nucleotides on the daughter strand complementary to the template DNA strand. DNA polymerase has a higher affinity to add the correct base and ensures fidelity during DNA replication. Furthermore, it exhibits proofreading activity during replication, using an exonuclease domain that cuts off incorrect nucleotides from the nascent DNA strand.
Errors During Replication are Corrected by the DNA Polymerase...

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Updated: May 5, 2026

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

The role of replicates for error mitigation in next-generation sequencing.

Kimberly Robasky¹, Nathan E Lewis², George M Church³

¹1] Program in Bioinformatics, Boston University, Massachusetts 02115, USA.Department of Genetics, Harvard Medical School, and the Wyss Institute for Biologically Inspired Engineering at Harvard University, Boston, Massachusetts 02115, USA. Present address: Expression Analysis, a Quintiles Company, Durham, North Carolina 27713, USA. [2].

Nature Reviews. Genetics

|December 11, 2013

Summary

Next-generation sequencing (NGS) has low error rates, but genome-wide analysis still produces false positive variant calls. Using replicates in NGS experiments can help reduce these errors.

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Area of Science:

Genomics
Bioinformatics
Molecular Biology

Background:

Next-generation sequencing (NGS) technologies have advanced significantly, improving accuracy and reducing error rates.
Despite improvements, the sheer scale of the human genome means even low error rates generate numerous false positive variant calls.

Purpose of the Study:

To discuss the sources of experimental errors in next-generation sequencing.
To explore the utility of experimental replicates in mitigating these errors.

Main Methods:

Review of common experimental error sources in NGS workflows.
Analysis of how incorporating replicates impacts variant call accuracy.

Main Results:

Identified key experimental factors contributing to errors in NGS data.
Demonstrated that replicates effectively reduce false positive variant calls.

Conclusions:

Experimental errors in NGS, though individually small, accumulate across the genome.
Strategic use of replicates is crucial for improving variant call reliability and reducing downstream experimental costs.