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Related Concept Videos

DNA Microarrays02:34

DNA Microarrays

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...
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,...
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-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

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Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

Polymorphism discovery in high-throughput resequenced microarray-enriched human genomic loci.

Alena A Antipova1, Tanya D Sokolsky, Christopher R Clouser

  • 1ABI, Beverly, Massachusetts 01915, USA. alena.antipova@appliedbiosystems.com

Journal of Biomolecular Techniques : JBT
|December 2, 2009
PubMed
Summary
This summary is machine-generated.

Developing cost-effective tools for genetic variant discovery is crucial for understanding human diseases. This study shows a robust method using SOLiD sequencing and microarray capture for efficient resequencing of human exons.

Keywords:
SNPhigh density oligonucleotide arrayhybridizationmassively parallel sequencing

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Area of Science:

  • Genomics
  • Molecular Biology
  • Human Genetics

Background:

  • Identifying genetic variants is essential for understanding human diseases.
  • Current methods for genome resequencing can be costly and complex.
  • Robust and efficient tools are needed for routine genetic analysis.

Purpose of the Study:

  • To develop and validate a cost-effective method for resequencing targeted human genome regions.
  • To enable efficient discovery of genetic variants and mutations associated with diseases.

Main Methods:

  • Utilized the Applied Biosystems SOLiD system sequencing platform.
  • Employed microarray capture for targeted enrichment of specific genomic regions, focusing on human protein-coding exons.
  • Performed high-coverage resequencing of selected targets.

Main Results:

  • Demonstrated an efficient and robust method for high-coverage resequencing.
  • Successfully identified genetic variants and polymorphisms within human protein-coding exons.
  • The combined approach proved effective for targeted genome analysis.

Conclusions:

  • Coupling SOLiD sequencing with microarray capture is an efficient strategy for targeted human exon resequencing.
  • This method facilitates robust discovery of genetic variants and mutations.
  • The approach offers a cost-effective solution for routine genetic analysis in disease research.