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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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Cancer-Critical Genes I: Proto-oncogenes01:33

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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
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Cancer-Critical Genes II: Tumor Suppressor Genes01:05

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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
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Related Experiment Video

Updated: Jan 6, 2026

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
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CNAScope: pan-cancer copy number aberration database with functional annotation and interactive visualization.

Xikang Feng1,2, Jieyi Zheng1, Sisi Peng1

  • 1School of Software, Northwestern Polytechnical University, Xi'an 710072, China.

Nucleic Acids Research
|November 20, 2025
PubMed
Summary
This summary is machine-generated.

CNAScope is a new database that provides functional annotations and visualizations for copy number aberrations (CNAs) in cancer. This resource aids researchers in understanding genomic diversity and accelerating cancer research.

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Area of Science:

  • Genomics
  • Oncology
  • Bioinformatics

Background:

  • Copy number aberrations (CNAs) are key drivers of genomic diversity and tumorigenesis in cancer.
  • Existing resources lack specificity, data modality breadth, and functional annotation for recurrent CNAs.

Purpose of the Study:

  • To present CNAScope, a comprehensive database for curated and functionally annotated somatic CNAs.
  • To provide interactive visualization and annotation tools for cancer genomic data.

Main Methods:

  • Curated over 3.9 million CNA profiles and 3.9 million metadata from 810 datasets.
  • Integrated data from 174,464 samples across 77 cancer subtypes.
  • Developed interactive tools for visualization, phylogenetic inference, and CNA detection.

Main Results:

  • CNAScope houses extensive CNA profiles and metadata from diverse cancer datasets.
  • The database offers downloadable annotations and interactive visualizations at multiple levels (bin, gene, pathway).
  • Includes tools for exploring data via heatmaps, phylogenetic trees, and embedding plots.

Conclusions:

  • CNAScope is a vital resource for cancer research, offering a large, annotated collection of CNA data.
  • Facilitates in-depth analysis and exploration of genomic diversity in cancer.
  • Empowers researchers to upload and annotate their own CNA data for real-time analysis.