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Related Concept Videos

Genetic Material01:20

Genetic Material

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Within the human body, a complex and detailed system of trillions of cells works in unison to sustain life. Each cell houses a nucleus, which contains 46 chromosomes divided into 23 pairs. Chromosomes are highly coiled structures made of the genetic material DNA. These chromosomes are essential carriers of genetic information, with half inherited from the mother through her egg and the other half from the father's sperm, combining to create the unique genetic makeup of an individual.
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Genomics02:02

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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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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
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Genome Size and the Evolution of New Genes03:21

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While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.
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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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Playing the genome card.

Ari Berkowitz1

  • 1Department of Biology and Cellular & Behavioral Neurobiology Graduate Program, University of Oklahoma, Norman, OK, USA.

Journal of Neurogenetics
|December 25, 2019
PubMed
Summary
This summary is machine-generated.

Genome sequencing has not revolutionized common disease treatment as predicted. Complex genetic and environmental factors, not single genes, cause most debilitating conditions, limiting genome sequencing

Keywords:
Human genome projectgenomic medicineindividualized medicinepersonalized medicine

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Area of Science:

  • Genomics
  • Medical Genetics
  • Disease Etiology

Background:

  • Predictions in the 1990s suggested genome sequencing would enable routine diagnosis and treatment of common diseases by 2020.
  • This vision has not materialized due to the complex genetic underpinnings of most debilitating conditions.

Purpose of the Study:

  • To analyze why genome sequencing has had a limited impact on treating common and debilitating diseases.
  • To examine the discrepancy between early predictions and current clinical utility of genome sequencing.

Main Methods:

  • Review of historical predictions regarding genome sequencing benefits.
  • Analysis of the genetic architecture of common and debilitating diseases.
  • Discussion of factors influencing the communication of scientific advancements.

Main Results:

  • Common and debilitating diseases are typically caused by complex interactions of multiple genes, epigenetic, environmental, and microbial factors, not single-gene mutations.
  • The utility of complete genome sequences for diagnosing and treating these complex conditions is limited.
  • Genome sequencing technologies have significantly advanced biological research but had a smaller-than-expected effect on common disease treatments.

Conclusions:

  • Early proponents of genome sequencing may have "mis-promised" its immediate medical benefits for common diseases.
  • Incentives for simplified scientific narratives may have contributed to misleading predictions about genetic causation.
  • Overstating the benefits of genome sequencing could potentially undermine long-term support for scientific research.