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Related Concept Videos

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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Comparing Copy Number Variations and SNPs02:26

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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-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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DNA Microarrays02:34

DNA Microarrays

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Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
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Updated: Mar 13, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
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Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

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SNP Arrays.

Jari Louhelainen1

  • 1Pharmacy and Biomolecular Sciences, Liverpool John Moores University, James Parsons Building, Byrom Street, Liverpool L3 3AF, UK. j.louhelainen@ljmu.ac.uk.

Microarrays (Basel, Switzerland)
|October 30, 2016
PubMed
Summary
This summary is machine-generated.

Single Nucleotide Polymorphism (SNP) arrays offer diverse applications beyond human cancers. This Special Issue explores their use in rare conditions, animal breeding, and bioinformatics, providing valuable insights for broader scientific fields.

Keywords:
SNP arraysanimal breedingarray bioinformaticshuman cancerslivestock geneticsrare human medical disorders

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Area of Science:

  • Genomics and Bioinformatics
  • Molecular Biology
  • Animal Genetics

Background:

  • This Special Issue presents a collection of research on Single Nucleotide Polymorphism (SNP) arrays, expanding their traditional focus on human cancers.
  • The scope includes diverse applications such as analyzing rare genetic conditions, advancing animal breeding strategies, and developing bioinformatics tools.

Discussion:

  • SNP array methodologies are applied to investigate three distinct cancer types, contributing to oncogenomic research.
  • Two studies utilize SNP arrays to analyze rare diseases, highlighting their utility in understanding complex genetic disorders.
  • Research also explores the application of SNP arrays in livestock genetic analysis, aiming to improve breeding programs.

Key Insights:

  • SNP arrays demonstrate versatility across human health, rare diseases, and animal genetics.
  • The reviewed papers address current literature gaps and offer practical guidelines for future SNP array implementations.
  • Technical advancements and diverse applications are showcased, benefiting a wide range of scientific disciplines.

Outlook:

  • Future research can leverage SNP arrays for more comprehensive genetic analyses in oncology and rare diseases.
  • Continued development of bioinformatics tools will enhance the interpretation of SNP array data.
  • The application of SNP arrays in animal breeding holds potential for significant advancements in livestock management and production.