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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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Single Nucleotide Polymorphisms-SNPs01:05

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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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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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Related Experiment Video

Updated: Jun 11, 2025

Infinium Assay for Large-scale SNP Genotyping Applications
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Genome-wide association testing beyond SNPs.

Laura Harris1, Ellen M McDonagh1, Xiaolei Zhang1

  • 1European Molecular Biology Laboratory (EMBL), European Bioinformatics Institute (EBI), Wellcome Genome Campus, Hinxton, UK.

Nature Reviews. Genetics
|October 7, 2024
PubMed
Summary
This summary is machine-generated.

Genome-wide association studies (GWAS) are exploring copy number variation (CNV) beyond common SNPs to uncover complex trait and disease genetics. This research highlights the need for improved infrastructure to fully utilize CNV-GWAS findings.

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Area of Science:

  • Human Genetics
  • Genomics
  • Complex Trait Genetics

Background:

  • Genome-wide association studies (GWAS) using common single nucleotide polymorphisms (SNPs) have advanced understanding of complex traits and diseases.
  • For some traits, SNP-based GWAS are reaching signal saturation, necessitating exploration of other genetic variations.
  • Copy number variation (CNV) significantly contributes to heritability and functional trait differences.

Purpose of the Study:

  • To review the current status of CNV-GWAS.
  • To identify limitations in resource infrastructure hindering CNV-GWAS adoption.
  • To suggest guidelines for future large-scale GWAS incorporating genetic variation beyond SNPs.

Main Methods:

  • Review of current literature and technological advancements in CNV detection.
  • Analysis of existing resource infrastructure for CNV-GWAS.
  • Discussion of implications for polygenic risk scoring and drug target identification.

Main Results:

  • Technological and computational advances facilitate large-scale, genome-wide CNV evaluation.
  • CNV-GWAS holds potential for advancing polygenic risk scoring and drug target discovery.
  • Current resource infrastructure presents limitations for widespread CNV-GWAS uptake.

Conclusions:

  • CNV-GWAS is a crucial next step in understanding the genetic basis of complex traits and diseases.
  • Overcoming infrastructure limitations is essential for broader implementation of CNV-GWAS.
  • Standardized guidelines are needed for future GWAS of genetic variation beyond SNPs.