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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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Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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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

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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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Antigen receptors are essential components of the immune system crucial in defending the body against foreign invaders. These receptors are present on the surface of B and T cells, enabling them to recognize antigens and mount an appropriate immune response.
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Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Related Experiment Video

Updated: Jan 4, 2026

Analysis of Somatic Hypermutation in the JH4 intron of Germinal Center B cells from Mouse Peyer's Patches
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Somatic Variants: New Kids on the Block in Human Immunogenetics.

L Van Horebeek1, B Dubois2, A Goris1

  • 1KU Leuven Department of Neurosciences, Laboratory for Neuroimmunology, 3000 Leuven, Belgium; Leuven Brain Institute, 3000 Leuven, Belgium.

Trends in Genetics : TIG
|November 1, 2019
PubMed
Summary

Somatic variants, acquired during life, are increasingly recognized in immune cells for nonmalignant disorders. Technological advances now allow detection of these genetic changes, revealing their role in immune diseases.

Keywords:
autoimmune diseasesimmune cellsnonmalignant immune-related diseasesprimary immunodeficiency diseasessomatic variants

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Area of Science:

  • Immunology
  • Genetics
  • Cell Biology

Background:

  • Individuals are mosaics of genetically distinct cells due to somatic variants acquired during lifetime.
  • The role of somatic variants is well-established in cancer.
  • Emerging evidence highlights their significance in nonmalignant immune-related disorders.

Purpose of the Study:

  • To review the growing role of somatic variants in immune cells within nonmalignant immune-related disorders.
  • To discuss the impact of technological advancements in detecting these variants.
  • To explore the contribution of somatic variants to both monogenic and complex immune diseases.

Main Methods:

  • Review of existing literature and case reports.
  • Analysis of technological evolution in variant detection.
  • Systematic exploration of somatic variant contribution to immune diseases.

Main Results:

  • Somatic variants in immune cells are implicated in primary immunodeficiency and autoimmune diseases.
  • Technological progress enables detection of late-onset somatic variants affecting fewer cells.
  • The scale of somatic variant contribution to monogenic and complex immune diseases is increasingly understood.

Conclusions:

  • Somatic variants are crucial players in nonmalignant immune disorders, not just cancer.
  • Advanced detection technologies are key to uncovering their full impact.
  • Further research is needed to systematically explore their role in complex immune diseases.