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Related Concept Videos

Genomics02:02

Genomics

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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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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.
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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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Ribosome profiling or ribo-sequencing is a deep sequencing technique that produces a snapshot of active translation in a cell. It selectively sequences the mRNAs protected by ribosomes to get an insight into a cell’s translation landscape at any given point in time.
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Genome-wide Association Studies-GWAS01:11

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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.
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Genetic Variation01:25

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
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Related Experiment Video

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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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Deciphering normal blood gene expression variation--The NOWAC postgenome study.

Vanessa Dumeaux1, Karina S Olsen, Gregory Nuel

  • 1Institute of Community Medicine, University of Tromsø, Tromsø, Norway. vanessa.dumeaux@uit.no

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PubMed
Summary
This summary is machine-generated.

Gene expression profiling in blood offers insights into health, but requires careful analysis. This study establishes the feasibility of blood gene expression profiling for understanding individual differences and exposures.

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Area of Science:

  • Genomics and Molecular Biology
  • Biomarker Discovery
  • Population Health Studies

Background:

  • Gene expression profiling of peripheral blood cells is a promising tool for disease and exposure assessment.
  • Robust baseline data on gene expression variability in healthy individuals is crucial for realizing this potential.
  • Understanding normal variation is key to interpreting gene signatures related to health and environmental factors.

Purpose of the Study:

  • To investigate the variability of whole blood gene expression in a general population of postmenopausal women.
  • To examine the impact of technical variability, inter-individual differences, and real-life exposure variables on blood gene expression.
  • To establish the feasibility of blood gene expression profiling with careful experimental design and analysis.

Main Methods:

  • Analysis of whole blood gene expression in a large sample set (N=286) from the Norwegian Women and Cancer (NOWAC) postgenome study.
  • Examination of gene expression changes due to technical factors, individual variations (fasting, BMI), and exposures (smoking).
  • Focus on biological implications and consistent effects across studies, rather than direct gene list comparisons.

Main Results:

  • Overall changes in gene expression were subtle, highlighting the need for sophisticated analytical approaches.
  • Technical variability significantly impacts gene expression and requires careful consideration and adjustment.
  • New candidate genes were identified as differentially expressed based on inter-individual factors and exposures like smoking.

Conclusions:

  • Blood gene expression profiling is feasible for population studies when confounding factors are minimized.
  • Careful experimental design and analysis are essential to mitigate artifacts and inter-individual variations.
  • This approach can identify biologically relevant gene expression changes related to individual characteristics and environmental exposures.