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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.
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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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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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Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the...
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The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
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Related Experiment Video

Updated: Nov 24, 2025

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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Neurologic Features with Pathogenic Copy Number Variants.

Jason Coryell1

  • 1Departments of Pediatrics and Neurology, Oregon Health & Sciences University, Portland, OR.

Pediatric Neurology Briefs
|December 23, 2020
PubMed
Summary
This summary is machine-generated.

Array comparative genomic hybridization (aCGH) showed diagnostic utility in children with suspected genetic neurological disorders. This retrospective review analyzed 555 pediatric cases to assess the yield of aCGH for diagnosing rare genetic conditions.

Keywords:
Comparative Genomic HybridizationGeneticPediatric Neurology

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Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Genetic etiologies are frequently suspected in children presenting with diverse neurologic phenotypes.
  • Accurate diagnosis is crucial for appropriate management and genetic counseling.
  • Advanced molecular techniques are essential for identifying underlying genetic causes.

Purpose of the Study:

  • To evaluate the diagnostic yield of array comparative genomic hybridization (aCGH).
  • To assess the utility of aCGH in a cohort of children with suspected genetic neurologic disorders.

Main Methods:

  • Retrospective review of medical records from 2006 to 2012.
  • Analysis of data from 555 children with neurologic phenotypes and suspected genetic etiology.
  • Focus on the diagnostic performance of aCGH.

Main Results:

  • Array comparative genomic hybridization (aCGH) demonstrated a significant diagnostic yield in identifying genetic causes of neurologic disorders.
  • The study identified specific genetic abnormalities contributing to the observed phenotypes in a substantial proportion of the pediatric cohort.
  • Results highlight aCGH as a valuable tool in the diagnostic workup of pediatric neurogenetic conditions.

Conclusions:

  • Array comparative genomic hybridization (aCGH) is an effective diagnostic tool for children with unexplained neurologic phenotypes.
  • The findings support the use of aCGH in the genetic investigation of pediatric neurodevelopmental and neurological disorders.
  • This study underscores the importance of advanced cytogenomic techniques in diagnosing rare genetic diseases.