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Related Concept Videos

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%...
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,...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Genome Copying Errors02:46

Genome Copying Errors

DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.

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Related Experiment Video

Updated: May 20, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Copy number variations in neurodevelopmental disorders.

Hannah M Grayton1, Cathy Fernandes, Dan Rujescu

  • 1Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College, London SE5 8AF, UK.

Progress in Neurobiology
|July 21, 2012
PubMed
Summary
This summary is machine-generated.

Common neurodevelopmental disorders stem from complex genetic and environmental factors. Recent genomic discoveries, like pathogenic copy number variants (CNVs), offer new diagnostic and therapeutic avenues for these conditions.

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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Last Updated: May 20, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Area of Science:

  • Genetics and Genomics
  • Neuroscience
  • Developmental Biology

Background:

  • Neurodevelopmental disorders (NDDs) like autism and schizophrenia have complex genetic and environmental causes.
  • These disorders face negative genetic selection due to high heritability and reduced fecundity.
  • Recent genomic variants, including de novo mutations and low-risk polymorphisms, are implicated.

Purpose of the Study:

  • To review the discovery and implications of pathogenic copy number variants (CNVs) in NDDs.
  • To highlight the unique features of pathogenic CNVs compared to Mendelian mutations.
  • To explore the translational opportunities presented by pathogenic CNV discoveries.

Main Methods:

  • Review of existing literature on genomic analyses of NDDs.
  • Analysis of copy number variant (CNV) detection methods.
  • Examination of clinical data and genetic counseling implications.

Main Results:

  • Identification of specific pathogenic CNVs (e.g., 22q11.2 deletion, NRXN1 deletions, 16p11.2 deletions/duplications) associated with NDDs.
  • Pathogenic CNVs exhibit incomplete penetrance, moderate-to-high risk, and diagnostic pleiotropy across the NDD spectrum.
  • Some CNVs are syndromic, suggesting distinct diagnostic classifications.

Conclusions:

  • Pathogenic CNVs are crucial contributors to NDD etiology.
  • These variants present unique genetic characteristics differentiating them from Mendelian mutations.
  • Discoveries facilitate advancements in genetic diagnosis, counseling, risk prediction, and personalized medicine for NDDs.