Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

11.6K
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%...
11.6K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

14.6K
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,...
14.6K
Gene Conversion02:08

Gene Conversion

9.2K
Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
9.2K
Crossing Over01:34

Crossing Over

128.6K
Unlike mitosis, meiosis aims for genetic diversity in its creation of haploid gametes. Dividing germ cells first begin this process in prophase I, where each chromosome—replicated in S phase—is now composed of two sister chromatids (identical copies) joined centrally.
The homologous pairs of sister chromosomes—one from the maternal and one from the paternal genome—then begin to align alongside each other lengthwise, matching corresponding DNA positions in a process...
128.6K
Karyotyping01:17

Karyotyping

49.3K
Overview
49.3K
Nondisjunction01:29

Nondisjunction

68.0K
During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
68.0K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Exploiting uniqueness: seed-chain-extend alignment on elastic founder graphs.

Bioinformatics (Oxford, England)·2025
Same author

Finding maximal exact matches in graphs.

Algorithms for molecular biology : AMB·2024
Same author

Tackling reference bias in genotyping by using founder sequences with PanVC 3.

Bioinformatics advances·2024
Same author

Chaining for accurate alignment of erroneous long reads to acyclic variation graphs.

Bioinformatics (Oxford, England)·2023
Same author

Bacterial genomic epidemiology with mixed samples.

Microbial genomics·2021
Same author

Distributed hybrid-indexing of compressed pan-genomes for scalable and fast sequence alignment.

PloS one·2021

Related Experiment Video

Updated: May 2, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

36.1K

Haploid to diploid alignment for variation calling assessment.

Veli Mäkinen, Jani Rahkola

    BMC Bioinformatics
    |February 26, 2014
    PubMed
    Summary

    Evaluating DNA variation calling methods is challenging due to indel invariance. We propose a genome alignment strategy to fairly compare predictions, improving accuracy for large insertions and deletions.

    Area of Science:

    • Genomics
    • Bioinformatics

    Background:

    • Variation calling identifies DNA differences using high-throughput sequencing.
    • Current methods struggle with comparing large insertions and deletions (indels) due to invariance issues.
    • Fair comparison of variation calling performance requires accounting for approximate predictions.

    Purpose of the Study:

    • To develop a robust method for comparing variation calling predictions, especially for indels.
    • To address the invariance problem in evaluating DNA variation detection algorithms.

    Main Methods:

    • A full genome alignment-based strategy is proposed.
    • Predicted variations are applied to a consensus genome to create haploid genomes.
    • Haploid genomes are aligned to artificial diploid genomes to assess prediction accuracy.

    More Related Videos

    Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
    09:30

    Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

    Published on: August 17, 2022

    2.1K
    Detection of Copy Number Alterations Using Single Cell Sequencing
    09:45

    Detection of Copy Number Alterations Using Single Cell Sequencing

    Published on: February 17, 2017

    12.6K

    Related Experiment Videos

    Last Updated: May 2, 2026

    Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
    09:34

    Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

    Published on: April 4, 2018

    36.1K
    Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
    09:30

    Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

    Published on: August 17, 2022

    2.1K
    Detection of Copy Number Alterations Using Single Cell Sequencing
    09:45

    Detection of Copy Number Alterations Using Single Cell Sequencing

    Published on: February 17, 2017

    12.6K
  • An optimized edit distance algorithm with diagonal doubling is used for scalability.

    • Main Results:

    • The alignment strategy effectively resolves invariance issues in indel comparison.
    • The method allows for fair evaluation of variation calling predictions, including approximate matches.
    • The approach is scalable and tested on simulated and real variation data.

    Conclusions:

    • The proposed genome alignment strategy provides a fair and accurate method for evaluating variation calling performance.
    • This approach improves the assessment of indel predictions, crucial for genomic analysis.