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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%...
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.
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,...
Gene Duplication and Divergence02:37

Gene Duplication and Divergence

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 characterized.
Genetic Variation01:25

Genetic Variation

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, which...
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

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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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

Bioinformatics for copy number variation data.

Melissa Warden1, Roger Pique-Regi, Antonio Ortega

  • 1Department of Pediatrics and Pathology, Keck School of Medicine, Childrens Hospital Los Angeles, University of Southern California, Los Angeles, CA, USA.

Methods in Molecular Biology (Clifton, N.J.)
|March 4, 2011
PubMed
Summary
This summary is machine-generated.

Copy number variation (CNV) in the human genome significantly impacts disease risk. This study introduces practical technologies and analysis methods for detecting CNV, demonstrating their application.

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Area of Science:

  • Genomics
  • Human Genetics
  • Bioinformatics

Background:

  • Copy number variation (CNV) represents substantial structural variation in the human genome.
  • CNVs, defined as gains or losses of genetic material >1 kb, are implicated in numerous Mendelian and complex human diseases.
  • Advancements in high-throughput, cost-effective technologies for CNV detection are crucial.

Purpose of the Study:

  • To provide a practical introduction to copy number variation detection technologies.
  • To outline available algorithms and analysis methods for copy number estimation.
  • To demonstrate a complete analysis workflow for copy number variation using an example case.

Main Methods:

  • Overview of historical and current CNV detection technologies, including comparative genomic hybridization (CGH), SNP arrays, and next-generation sequencing (NGS).
  • Discussion of various computational algorithms for copy number estimation from high-throughput data.
  • Step-by-step demonstration of a typical CNV analysis pipeline.

Main Results:

  • The study provides a clear overview of the evolution of CNV detection technologies.
  • It highlights the diversity of algorithms available for copy number analysis.
  • An example case illustrates the practical application of these methods.

Conclusions:

  • Understanding copy number variation is critical for human disease research.
  • A range of technologies and analysis methods are available for CNV detection.
  • Practical demonstration aids researchers in applying CNV analysis techniques.