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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,...
Karyotyping01:17

Karyotyping

Overview
Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
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.

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Related Experiment Video

Updated: May 25, 2026

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

Interpretation of genomic copy number variants using DECIPHER.

Manuel Corpas1, Eugene Bragin, Stephen Clayton

  • 1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom.

Current Protocols in Human Genetics
|January 14, 2012
PubMed
Summary

The DECIPHER database aids in interpreting copy number variations (CNVs) in developmental disorders. It links genomic data with patient phenotypes to identify new genetic syndromes and improve diagnoses.

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Area of Science:

  • Genetics
  • Bioinformatics
  • Clinical Genetics

Background:

  • Submicroscopic deletions/duplications in developmental disorders disrupt gene dosage and expression.
  • Novel or rare genomic changes complicate clinical interpretation and genotype-phenotype correlations.

Purpose of the Study:

  • To demonstrate the utility of the DECIPHER database for interpreting copy number variation (CNV).
  • To facilitate the association of genomic variation with patient phenotypes for improved diagnostic certainty and syndrome characterization.

Main Methods:

  • Utilizing the DECIPHER database to search for consented patients with shared chromosomal locations.
  • Employing visualization tools and the Ensembl genome browser for region navigation.
  • Analyzing affected genes, prioritizing based on haploinsufficiency, and uploading patient data.

Main Results:

  • DECIPHER enables searching for patients with specific genomic rearrangements.
  • The platform facilitates gene analysis and prioritization for haploinsufficiency.
  • Users can upload patient data and generate detailed reports.

Conclusions:

  • DECIPHER is a valuable resource for clinicians and researchers to characterize chromosomal imbalances.
  • The database aids in diagnosing developmental disorders by linking genomic data to phenotypes.
  • Facilitates the identification and characterization of novel genetic syndromes through collaborative data sharing.