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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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Genetics of Speciation02:16

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Speciation is the evolutionary process resulting in the formation of new, distinct species—groups of reproductively isolated populations.
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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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Genomic Imprinting and Inheritance02:30

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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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What is Population Genetics?01:25

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A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Recent developments in genetic/genomic medicine.

Rachel H Horton1, Anneke M Lucassen2

  • 1Clinical Ethics and Law, Faculty of Medicine, University of Southampton, Southampton, United Kingdom r.h.horton@soton.ac.uk.

Clinical Science (London, England : 1979)
|March 7, 2019
PubMed
Summary
This summary is machine-generated.

Genetic testing advancements offer new diagnostic possibilities but also unexpected findings, impacting families. Rapid genomic testing is now influencing acute care decisions and treatment options for genetic disorders.

Keywords:
ethicsgeneticsgenomics

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Area of Science:

  • Clinical Genetics
  • Genomic Medicine
  • Medical Technology

Background:

  • Genetic testing technology is rapidly advancing, necessitating a reevaluation of its clinical applications and scope.
  • Genomic testing offers enhanced diagnostic and predictive capabilities, alongside a higher likelihood of incidental or uncertain findings with familial implications.
  • The increasing speed and accessibility of genomic testing are transforming its integration into acute inpatient care decisions.

Purpose of the Study:

  • To review the evolving landscape of genetic medicine.
  • To highlight the impact of technological advancements on genetic testing and its clinical utility.
  • To discuss the changing implications for patient care and treatment of genetic conditions.

Main Methods:

  • Literature review of recent advancements in genetic technology.
  • Analysis of the impact of genomic testing on clinical practice.
  • Examination of the evolving treatment landscape for genetic disorders.

Main Results:

  • Genetic technology advances are expanding diagnostic and predictive power.
  • Genomic testing yields more frequent uncertain/unexpected findings, affecting family members.
  • Rapid genomic results are increasingly influencing acute care and treatment strategies.
  • Direct-to-consumer genetic testing is expanding access outside traditional healthcare settings.

Conclusions:

  • Genetic medicine is rapidly evolving due to technological progress.
  • The clinical utility and implications of genetic testing are expanding, requiring adaptation in healthcare.
  • Future genetic medicine will involve more personalized treatments and proactive health management.