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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.
Genes exist in different versions called alleles,...
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Gene Duplication and Divergence02:37

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The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are...
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Evolutionary Relationships through Genome Comparisons02:54

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Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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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: Jun 17, 2025

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

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Copy-number variants differ in frequency across genetic ancestry groups.

Laura M Schultz1, Alexys Knighton2, Guillaume Huguet3

  • 1Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

HGG Advances
|August 14, 2024
PubMed
Summary

Deleterious copy-number variants (CNVs) are less common in non-European ancestry groups. Genetic ancestry is crucial for understanding CNV associations with neuropsychiatric and cognitive conditions like autism spectrum disorder (ASD).

Keywords:
LOEUFSPARKUK Biobankautismdeletionduplicationneuropsychiatric disorderrecurrent CNV

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Last Updated: Jun 17, 2025

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Area of Science:

  • Genetics
  • Neuroscience
  • Population Health

Background:

  • Copy-number variants (CNVs) are linked to neuropsychiatric and cognitive disorders.
  • Understanding population-specific genetic variations is essential for accurate health outcome associations.

Purpose of the Study:

  • To investigate the prevalence of deleterious CNVs across different ancestral populations.
  • To identify specific CNVs with varying frequencies across ancestry groups.
  • To emphasize the importance of considering genetic ancestry in CNV-phenotype association studies.

Main Methods:

  • Analysis of CNV data from the UK Biobank (UKBB) and a US replication cohort (SPARK).
  • Comparison of CNV prevalence between European and non-European ancestry groups.
  • Identification of recurrent CNVs showing differential frequencies across populations.

Main Results:

  • Deleterious CNVs were found to be less prevalent in non-European ancestry groups compared to European ancestry groups in both cohorts.
  • Specific recurrent CNVs exhibited consistent frequency differences across ancestry groups in both UKBB and SPARK.
  • These findings were observed in both a general community population and a cohort enriched for autism spectrum disorder (ASD).

Conclusions:

  • Genetic ancestry significantly influences the prevalence of CNVs.
  • Ancestry-related differences in CNV frequency must be accounted for when studying associations with health outcomes, including neuropsychiatric and cognitive phenotypes.
  • Incorporating genetic ancestry is vital for robust research into CNVs and their role in human health.