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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

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Related Experiment Video

Updated: Jul 10, 2026

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

Rapid identification of single nucleotide substitutions using SeqDoC.

Mark L Crowe

    Methods in Molecular Biology (Clifton, N.J.)
    |November 21, 2007
    PubMed
    Summary

    SeqDoC simplifies nucleotide substitution detection by comparing DNA sequence traces, improving accuracy and speed for point mutation analysis in low-throughput settings.

    Area of Science:

    • Molecular Biology
    • Bioinformatics
    • Genetics

    Background:

    • Identifying nucleotide substitutions in DNA sequences is crucial for detecting single nucleotide polymorphisms (SNPs) and point mutations.
    • Traditional methods can be time-consuming and inaccurate, especially in low-throughput scenarios where automation is not feasible.

    Purpose of the Study:

    • To introduce SeqDoC, a web-based application designed to simplify the identification of nucleotide substitutions.
    • To provide a user-friendly tool for direct subtractive comparison of raw sequence traces.

    Main Methods:

    • SeqDoC utilizes direct subtractive comparison of raw sequence traces to highlight nucleotide differences.
    • Moving window normalization functions compensate for sequencing artifacts like variable peak separation and signal strength.

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    Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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    Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

    Published on: June 23, 2012

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    Last Updated: Jul 10, 2026

    Rare Event Detection Using Error-corrected DNA and RNA Sequencing
    10:36

    Rare Event Detection Using Error-corrected DNA and RNA Sequencing

    Published on: August 3, 2018

    Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
    10:41

    Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

    Published on: March 29, 2017

    Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
    14:06

    Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

    Published on: June 23, 2012

  • A specialized algorithm enhances the signal-to-noise ratio to emphasize substitution-related features.
  • Main Results:

    • The application enables rapid identification of differences between reference and test DNA sequences.
    • SeqDoC offers a simple and intuitive analysis of sequence trace comparisons.
    • The tool effectively compensates for common sequencing artifacts.

    Conclusions:

    • SeqDoC offers an efficient and accurate solution for identifying nucleotide substitutions in DNA sequences.
    • The web-based application is particularly beneficial for low-throughput genetic analysis.
    • SeqDoC streamlines the process of point mutation and SNP detection.