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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

18.8K
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

Single Nucleotide Polymorphisms-SNPs

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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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Genome Copying Errors02:46

Genome Copying Errors

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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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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,...
1.5K
Gene Duplication and Divergence02:37

Gene Duplication and Divergence

8.1K
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...
8.1K
Hardy-Weinberg Principle01:49

Hardy-Weinberg Principle

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Diploid organisms have two alleles of each gene, one from each parent, in their somatic cells. Therefore, each individual contributes two alleles to the gene pool of the population. The gene pool of a population is the sum of every allele of all genes within that population and has some degree of variation. Genetic variation is typically expressed as a relative frequency, which is the percentage of the total population that has a given allele, genotype or phenotype.
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Related Experiment Video

Updated: Feb 23, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
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Detection of Copy Number Alterations Using Single Cell Sequencing

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A Total-variation Constrained Permutation Model for Revealing Common Copy Number Patterns.

Yue Zhang1,2, Yiu-Ming Cheung3,4,5, Weifeng Su6

  • 1Electrical and Information College of Jinan University, Zhuhai, China.

Scientific Reports
|August 31, 2017
PubMed
Summary
This summary is machine-generated.

This study introduces a novel method to uncover hidden block patterns in noisy single-cell DNA sequencing data. By permuting samples, it reveals cellular evolution and copy-number profiles, improving cancer research insights.

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

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Area of Science:

  • Genomics
  • Bioinformatics
  • Cancer Research

Background:

  • DNA copy number variations are crucial for understanding genome evolution and cancer cell replication.
  • Single-cell sequencing reveals gene-expression heterogeneity and cell evolution, but data is often noisy due to amplification.
  • Visualizing evolutionary relationships requires adjacent positioning of similar cells based on copy-number profiles.

Purpose of the Study:

  • To develop a method for recovering hidden block patterns in noisy single-cell DNA sequencing data.
  • To enable accurate visualization of evolutionary relationships and copy-number profiles from single-cell DNA data.

Main Methods:

  • Proposing a sample permutation strategy guided by minimizing the total variational norm of copy number profiles.
  • Utilizing an efficient numerical scheme based on the alternating direction method of multipliers for permutation optimization.

Main Results:

  • The proposed method successfully recovers hidden block structures within single-cell DNA sequencing data.
  • Demonstrated effectiveness on both simulated and real biological datasets.

Conclusions:

  • The developed technique enhances the analysis of single-cell DNA sequencing data, overcoming amplification-induced noise.
  • This approach facilitates a deeper understanding of cellular evolution and DNA replication regulation in cancer.