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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

17.9K
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,...
17.9K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

15.3K
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...
15.3K
Cancer Prevention02:59

Cancer Prevention

7.6K
Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
7.6K
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

14.5K
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
14.5K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

18.6K
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%...
18.6K
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

9.4K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
9.4K

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Related Experiment Videos

Single-Nucleotide Polymorphism to Associate Cancer Risk.

Victoria Shaw1, Katie Bullock1, William Greenhalf2

  • 1NIHR Pancreatic Biomedical Research Unit, Molecular and Clinical Cancer Medicine, Royal Liverpool University Hospital, 5th Floor UCD Block, Daulby Street, Liverpool, L69 3GA, UK.

Methods in Molecular Biology (Clifton, N.J.)
|December 16, 2015
PubMed
Summary

Next-generation sequencing (NGS) advances whole-genome analysis for personalized cancer risk assessment. This review compares NGS platforms, discussing opportunities, risks, informatics, and ethical considerations for targeted screening.

Keywords:
Next Generation Sequencing (NGS)Single-nucleotide polymorphism (SNP)

Related Experiment Videos

Area of Science:

  • Genomics
  • Cancer Genetics
  • Bioinformatics

Background:

  • Genetic heterogeneity contributes to varying cancer predispositions.
  • Whole-genome analysis enables personalized risk assessment and targeted screening.
  • Next-generation sequencing (NGS) is surpassing array-based methods for genome-wide analysis.

Purpose of the Study:

  • To review and compare available next-generation sequencing (NGS) platforms.
  • To discuss the opportunities and risks associated with NGS for cancer risk assessment.
  • To highlight informatics requirements and ethical considerations for implementing NGS.

Main Methods:

  • Comparative review of current NGS platforms.
  • Discussion of informatics packages for data analysis.
  • Examination of ethical implications of personalized genomic data.

Main Results:

  • NGS platforms offer diverse capabilities for whole-genome analysis.
  • Informatics and ethical challenges require careful consideration for NGS implementation.
  • Personal Genome Machine (PGM) workflows serve as an example of practical application.

Conclusions:

  • NGS provides powerful tools for understanding cancer predisposition and personalized risk.
  • Effective implementation requires robust informatics infrastructure and ethical guidelines.
  • Future applications will enhance targeted cancer screening and risk management.