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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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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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Single Nucleotide Polymorphisms-SNPs01:05

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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,...
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Genetic Variation01:25

Genetic Variation

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
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Variance01:15

Variance

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The deviations show how spread out the data are about the mean. A positive deviation occurs when the data value exceeds the mean, whereas a negative deviation occurs when the data value is less than the mean. If the deviations are added, the sum is always zero. So one cannot simply add the deviations to get the data spread. By squaring the deviations, the numbers are made positive; thus, their sum will also be positive.
The standard deviation measures the spread in the same units as the data....
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Conservative Site-specific Recombination and Phase Variation02:53

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Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
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Viral Recombination00:57

Viral Recombination

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Cells are sometimes infected by more than one virus at once. When two viruses disassemble to expose their genomes for replication in the same cell, similar regions of their genomes can pair together and exchange sequences in a process called recombination. Alternatively, viruses with segmented genomes can swap segments in a process called reassortment.
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Related Experiment Video

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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The variome concept: focus on CNVariome.

Ivan Y Iourov1,2, Svetlana G Vorsanova1,2, Yuri B Yurov1,2

  • 1Yurov's Laboratory of Molecular Genetics and Cytogenomics of the Brain, Mental Health Research Center, 117152 Moscow, Russia.

Molecular Cytogenetics
|January 1, 2020
PubMed
Summary

The variome concept, focusing on copy number variations (CNVs), suggests that the entire set of an individual's genomic variations influences their traits and diseases. Analyzing this CNVariome offers a new approach to understanding complex genetic mechanisms.

Keywords:
Copy number variationsGenome variationsPathwaysSomatic mosaicismVariome

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Area of Science:

  • Genomics
  • Systems Biology
  • Human Genetics

Background:

  • Traditional genetic studies often focus on single mutations, overlooking the complex interplay of multiple genomic variations.
  • The phenome, or the complete set of observable traits, is influenced by a complex genomic milieu, not just individual genetic changes.
  • Copy Number Variation (CNV) burden exemplifies the cumulative effect of genomic variations on phenotype.

Purpose of the Study:

  • To introduce and validate the CNVariome concept, defining it as the complete set of CNVs within an individual's genome.
  • To establish the CNVariome as a crucial target for genomic analyses aimed at understanding disease mechanisms.
  • To highlight the potential of the CNVariome in unraveling the genetic basis of phenotypic traits and diseases.

Main Methods:

  • Analysis of existing CNV data to support the proposed variome concept.
  • Development of a framework for studying the collective impact of genomic variations.
  • Bioinformatic approaches to analyze individual and disease-specific variomes.

Main Results:

  • Evidence supporting the existence of a CNVariome, representing the totality of an individual's CNVs.
  • Demonstration that the genomic milieu, shaped by CNVariome interplay, influences phenotypic outcomes.
  • Identification of pathway-specific variomes affecting genome stability and leading to genomic instability or somatic mosaicism.

Conclusions:

  • The CNVariome concept posits that an individual's genomic milieu is defined by their complete set of CNVs, influencing health and disease.
  • Variomes can be individual, disease-specific, or pathway-specific, impacting molecular pathways and genome stability.
  • Bioinformatic analysis of individual and somatic variomes, within disease- and pathway-specific contexts, is key to understanding the phenome and developing treatments for incurable diseases.