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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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Genome Copying Errors02:46

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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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Related Experiment Video

Updated: Oct 25, 2025

Detection of Copy Number Alterations Using Single Cell Sequencing
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The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research.

David Salgado1, Irina M Armean2, Michael Baudis3

  • 1Aix Marseille Univ, INSERM, MMG, Marseille, France.

F1000Research
|August 9, 2021
PubMed
Summary
This summary is machine-generated.

Copy number variations (CNVs) significantly impact genetic diseases and cancers. This white paper outlines a framework for ELIXIR's human CNV Community to improve CNV detection and interpretation, advancing genomics research.

Keywords:
Common DiseasesCopy Number VariationData analysisFederated Human DataHuman GeneticsOncogeneticsnext-generation sequencingwhole genome sequencing

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Area of Science:

  • Genomics
  • Bioinformatics
  • Human Genetics

Background:

  • Copy number variations (CNVs) are key drivers of genetic diseases and human cancers.
  • High-throughput sequencing technologies offer potential for genomic screening but have limitations in efficient CNV detection.

Purpose of the Study:

  • To establish a guiding framework for ELIXIR's human CNV Community.
  • To define priority objectives and tasks for addressing CNV detection, interpretation, sharing, and training.
  • To align activities within the ELIXIR Platforms strategy and international context.

Main Methods:

  • The white paper is based on a strategy meeting of ELIXIR Node representatives in September 2018.
  • It involves defining priority objectives and tasks for the human CNV Community.
  • Suggestions are provided for aligning tasks with ELIXIR Platforms and international efforts.

Main Results:

  • Identified challenges in CNV detection and interpretation using current sequencing technologies.
  • Defined a strategic framework for the ELIXIR human CNV Community.
  • Outlined priority objectives and tasks for advancing CNV research and application.

Conclusions:

  • The ELIXIR human CNV Community has a crucial role in improving CNV analysis.
  • A coordinated approach is needed to address challenges in CNV detection, interpretation, sharing, and training.
  • The proposed framework will guide future contributions to human disease diagnostics and population genomics.